Variant report

Variant	nsv997876
Chromosome Location	chr1:144033939-144538748
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4233)
CpG islands
(count:1586)
Chromatin interactive
region (count:267)
LncRNA
region (count:97)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:144532762-144534541	K562	blood:	n/a	n/a
2	ARID3A	chr1:144535027-144535473	K562	blood:	n/a	n/a
3	ARID3A	chr1:144535206-144535581	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:144532296-144532499	K562	blood:	n/a	n/a
5	ARID3A	chr1:144537463-144537485	K562	blood:	n/a	n/a
6	ARID3A	chr1:144533334-144534462	HepG2	liver:	n/a	n/a
7	ATF1	chr1:144536174-144536392	K562	blood:	n/a	n/a
8	ATF1	chr1:144528291-144528404	K562	blood:	n/a	n/a
9	ATF1	chr1:144535220-144535590	K562	blood:	n/a	n/a
10	ATF1	chr1:144532323-144532462	K562	blood:	n/a	n/a
11	ATF1	chr1:144531464-144531591	K562	blood:	n/a	n/a
12	ATF1	chr1:144533100-144534496	K562	blood:	n/a	n/a
13	ATF2	chr1:144533458-144534609	GM12878	blood:	n/a	n/a
14	ATF2	chr1:144533459-144534584	GM12878	blood:	n/a	n/a
15	ATF2	chr1:144533382-144534573	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr1:144533212-144534565	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF3	chr1:144533135-144534621	A549	lung:	n/a	chr1:144533784-144533797 chr1:144533946-144533955 chr1:144533783-144533798
18	ATF3	chr1:144533542-144534429	K562	blood:	n/a	chr1:144533784-144533797 chr1:144533946-144533955 chr1:144533783-144533798
19	ATF3	chr1:144533311-144534469	A549	lung:	n/a	chr1:144533784-144533797 chr1:144533946-144533955 chr1:144533783-144533798
20	ATF3	chr1:144533095-144534612	K562	blood:	n/a	chr1:144533784-144533797 chr1:144533946-144533955 chr1:144533783-144533798
21	BACH1	chr1:144532809-144534499	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr1:144532785-144534560	K562	blood:	n/a	n/a
23	BACH1	chr1:144534872-144535121	K562	blood:	n/a	n/a
24	BACH1	chr1:144532184-144532396	K562	blood:	n/a	n/a
25	BATF	chr1:144067020-144067334	GM12878	blood:	n/a	chr1:144067195-144067206
26	BATF	chr1:144355376-144355716	GM12878	blood:	n/a	n/a
27	BATF	chr1:144325736-144326116	GM12878	blood:	n/a	n/a
28	BATF	chr1:144091634-144091915	GM12878	blood:	n/a	n/a
29	BATF	chr1:144379807-144380075	GM12878	blood:	n/a	n/a
30	BATF	chr1:144383148-144383389	GM12878	blood:	n/a	n/a
31	BATF	chr1:144492553-144492818	GM12878	blood:	n/a	n/a
32	BATF	chr1:144068682-144069090	GM12878	blood:	n/a	chr1:144068921-144068932
33	BATF	chr1:144514091-144514321	GM12878	blood:	n/a	n/a
34	BATF	chr1:144501231-144502049	GM12878	blood:	n/a	chr1:144501567-144501576
35	BATF	chr1:144393767-144394272	GM12878	blood:	n/a	chr1:144393981-144393992 chr1:144394139-144394149
36	BATF	chr1:144333842-144334072	GM12878	blood:	n/a	n/a
37	BATF	chr1:144146857-144147088	GM12878	blood:	n/a	n/a
38	BATF	chr1:144389062-144389424	GM12878	blood:	n/a	chr1:144389254-144389265
39	BATF	chr1:144310715-144311748	GM12878	blood:	n/a	n/a
40	BATF	chr1:144339194-144339724	GM12878	blood:	n/a	n/a
41	BATF	chr1:144518896-144519120	GM12878	blood:	n/a	n/a
42	BATF	chr1:144533969-144534491	GM12878	blood:	n/a	n/a
43	BATF	chr1:144328809-144329030	GM12878	blood:	n/a	n/a
44	BATF	chr1:144518142-144518372	GM12878	blood:	n/a	n/a
45	BATF	chr1:144320981-144321799	GM12878	blood:	n/a	chr1:144321317-144321326
46	BATF	chr1:144490944-144491993	GM12878	blood:	n/a	n/a
47	BATF	chr1:144513389-144513659	GM12878	blood:	n/a	n/a
48	BATF	chr1:144383148-144383357	GM12878	blood:	n/a	n/a
49	BATF	chr1:144326880-144327091	GM12878	blood:	n/a	n/a
50	BATF	chr1:144517018-144517384	GM12878	blood:	n/a	n/a

(count:1586 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:144533354-144533404	Hepatocyte	liver:	n/a
2	chr1:144521081-144521131	HUVEC	blood vessel:	n/a
3	chr1:144530736-144530786	BJ	skin:	n/a
4	chr1:144522237-144522287	GM19239	blood:	n/a
5	chr1:144537544-144537594	SK-N-SH_RA	brain:	n/a
6	chr1:144520156-144520206	AG09319	gingival:	n/a
7	chr1:144520991-144521041	HCM	heart:	n/a
8	chr1:144533354-144533404	AG04450	lung:	fetal
9	chr1:144479586-144479636	GM06990	blood:	n/a
10	chr1:144533861-144533911	HL-60	blood:	n/a
11	chr1:144534187-144534237	NH-A	brain:	n/a
12	chr1:144521228-144521278	HL-60	blood:	n/a
13	chr1:144340251-144340301	GM19239	blood:	n/a
14	chr1:144522237-144522287	PANC-1	pancreas:	n/a
15	chr1:144521228-144521278	HRPEpiC	eye:	n/a
16	chr1:144530736-144530786	MCF-7	breast:	n/a
17	chr1:144534187-144534237	K562	blood:	n/a
18	chr1:144340161-144340211	HUVEC	blood vessel:	n/a
19	chr1:144489264-144489314	HCT-116	colon:	n/a
20	chr1:144521228-144521278	HCT-116	colon:	n/a
21	chr1:144340161-144340211	ECC-1	luminal epithelium:	n/a
22	chr1:144481939-144481989	ECC-1	luminal epithelium:	n/a
23	chr1:144534187-144534237	GM12891	blood:	n/a
24	chr1:144521462-144521512	NB4	blood:	n/a
25	chr1:144522237-144522287	SKMC	muscle:	n/a
26	chr1:144485590-144485640	GM12878	blood:	n/a
27	chr1:144533951-144534001	NB4	blood:	n/a
28	chr1:144533778-144533828	NT2-D1	testis:	n/a
29	chr1:144533778-144533828	IMR90	lung:	fetal
30	chr1:144044138-144044188	HRE	kidney:	n/a
31	chr1:144520991-144521041	HAEpiC	amniotic membrane:	n/a
32	chr1:144340161-144340211	SAEC	small airway:	n/a
33	chr1:144524229-144524279	HEK293	kidney:	embryo
34	chr1:144533354-144533404	NHBE	bronchial:	n/a
35	chr1:144533778-144533828	GM06990	blood:	n/a
36	chr1:144479586-144479636	H1-hESC	embryonic stem cell:	embryo
37	chr1:144524229-144524279	MCF-7	breast:	n/a
38	chr1:144521228-144521278	HEK293	kidney:	embryo
39	chr1:144340161-144340211	GM12892	blood:	n/a
40	chr1:144534187-144534237	PANC-1	pancreas:	n/a
41	chr1:144520991-144521041	SK-N-MC	brain:	n/a
42	chr1:144521462-144521512	HRPEpiC	eye:	n/a
43	chr1:144520201-144520251	PrEC	prostate:	n/a
44	chr1:144533844-144533894	BE2_C	brain:	n/a
45	chr1:144340251-144340301	AoSMC	blood vessel:	n/a
46	chr1:144489264-144489314	H1-hESC	embryonic stem cell:	embryo
47	chr1:144489264-144489314	HEEpiC	esophagus:	n/a
48	chr1:144044138-144044188	HNPCEpiC	eye:	n/a
49	chr1:144533861-144533911	PrEC	prostate:	n/a
50	chr1:144522237-144522287	ProgFib	skin:	n/a

(count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr1:144531838..144533805-chr1:150206614..150208710,2	K562	blood:
2	chr1:144533622..144534350-chr12:51476813..51477576,2	Hela-S3	cervix:
3	chr1:144533724..144534310-chr2:191878831..191879409,2	NB4	blood:
4	chr1:144533931..144534460-chr4:129208632..129209239,2	Hela-S3	cervix:
5	chr1:144533785..144534312-chr6:24720640..24721160,2	Hela-S3	cervix:
6	chr1:21113288..21114044-chr1:144533309..144534299,4	Hela-S3	cervix:
7	chr1:144534176..144534940-chr17:46681915..46682435,2	Hela-S3	cervix:
8	chr1:144534249..144534860-chr12:57505541..57506097,2	Hela-S3	cervix:
9	chr1:144533645..144534350-chr1:149215075..149215829,2	HCT-116	colon:
10	chr1:144533656..144534183-chr19:16652960..16653731,2	HCT-116	colon:
11	chr1:144532778..144535743-chr1:145042899..145044977,2	K562	blood:
12	chr1:144532329..144536270-chr1:145012343..145016063,6	K562	blood:
13	chr1:144533721..144534392-chr14:68282945..68283543,2	Hela-S3	cervix:
14	chr1:144533652..144534184-chr2:88927224..88927845,2	Hela-S3	cervix:
15	chr1:144533643..144534339-chr15:78556421..78557287,2	Hela-S3	cervix:
16	chr1:144533861..144534724-chr7:130791151..130791980,2	Hela-S3	cervix:
17	chr1:144533558..144534602-chr19:571405..572693,3	Hela-S3	cervix:
18	chr1:144530771..144535713-chr1:149191808..149196822,37	K562	blood:
19	chr1:144533169..144534313-chr11:65266374..65267027,4	Hela-S3	cervix:
20	chr1:144530771..144535863-chr1:144988447..145007040,21	K562	blood:
21	chr1:144533570..144534301-chr12:110906200..110907195,2	Hela-S3	cervix:
22	chr1:144534089..144535693-chr1:145093143..145095512,2	K562	blood:
23	chr1:144533945..144534883-chr3:133292589..133293471,2	Hela-S3	cervix:
24	chr1:144533640..144534222-chr5:180649728..180650375,2	Hela-S3	cervix:
25	chr1:144532854..144535765-chr1:148603401..148605214,4	K562	blood:
26	chr1:144533737..144534794-chr20:47537863..47538708,3	Hela-S3	cervix:
27	chr1:144533618..144534203-chr14:105766994..105767831,2	Hela-S3	cervix:
28	chr1:144533848..144534656-chr15:51057553..51058077,2	Hela-S3	cervix:
29	chr1:144534120..144534744-chr11:62648041..62648567,2	Hela-S3	cervix:
30	chr1:144534129..144535866-chr1:149816096..149818142,2	K562	blood:
31	chr1:144533744..144537008-chr1:149856854..149861459,6	K562	blood:
32	chr1:144533670..144534281-chr11:75273793..75274528,2	HCT-116	colon:
33	chr1:144534910..144535898-chr2:5765419..5766529,10	MCF-7	breast:
34	chr1:144533558..144534385-chr14:50778724..50779632,2	Hela-S3	cervix:
35	chr1:144532605..144534445-chr1:149782477..149783992,2	K562	blood:
36	chr1:144535002..144537570-chr1:146642570..146644965,3	K562	blood:
37	chr1:144534174..144534747-chrX:47004344..47005153,2	Hela-S3	cervix:
38	chr1:144528041..144529710-chr1:149204755..149206501,2	K562	blood:
39	chr1:144533626..144534147-chr12:92539102..92540022,2	Hela-S3	cervix:
40	chr1:144527669..144530137-chr2:91816221..91820351,3	K562	blood:
41	chr1:144533860..144534719-chr6:30584651..30585374,5	Hela-S3	cervix:
42	chr1:38061052..38061884-chr1:144533650..144534319,2	Hela-S3	cervix:
43	chr1:144534120..144534663-chr12:8185207..8185847,2	Hela-S3	cervix:
44	chr1:144533657..144534237-chr5:96270556..96271167,2	Hela-S3	cervix:
45	chr1:144533877..144534615-chr15:65596654..65597253,2	HCT-116	colon:
46	chr1:144534039..144535886-chr2:5778523..5780401,2	K562	blood:
47	chr1:144533847..144534452-chr4:74124444..74125286,2	Hela-S3	cervix:
48	chr1:144533886..144534762-chr15:102191952..102192648,2	Hela-S3	cervix:
49	chr1:144533933..144534698-chr15:89010989..89011708,2	Hela-S3	cervix:
50	chr1:144533721..144534656-chr12:121837654..121838564,2	Hela-S3	cervix:

(count:97 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPIAL4B-1	chr1:144340526-144340736	ENSG00000235398
2	lnc-AL592284.1-3	chr1:144212643-144213017	NONHSAT005770
3	lnc-PPIAL4B-1	chr1:144281066-144281169	ENSG00000235398
4	lnc-FAM72D-1	chr1:144091810-144091946	ENSG00000224363
5	lnc-FAM72D-1	chr1:144087524-144087804	NONHSAT005765
6	lnc-RP3-377D14.1.1-10	chr1:144401304-144401978	expReg_chr1_15531_+
7	lnc-AL592284.1-3	chr1:144215316-144215424	NONHSAT005770
8	lnc-AL592284.1-4	chr1:144166564-144166933	NONHSAT005769
9	lnc-FAM72D-1	chr1:144088374-144088668	NONHSAT005766
10	lnc-PPIAL4B-5	chr1:144475088-144475533	predAs_chen_AA985444_1
11	lnc-AL592284.1-4	chr1:144167648-144167711	NONHSAT005769
12	lnc-PPIAL4B-2	chr1:144520774-144521002	ENSG00000236943.1
13	lnc-PPIAL4B-2	chr1:144521884-144521970	ENSG00000236943.1
14	lnc-PPIAL4B-1	chr1:144300517-144300755	NR_024584
15	lnc-PPIAL4B-2	chr1:144520774-144520919	ENSG00000236943.1
16	lnc-PPIAL4B-1	chr1:144301326-144301536	ENSG00000235398.4
17	lnc-PPIAL4B-1	chr1:144300512-144300755	NR_109754
18	lnc-PPIAL4B-2	chr1:144516478-144516503	ENSG00000236943.1
19	lnc-PPIAL4B-1	chr1:144301190-144301536	NR_024584
20	lnc-FAM72D-1	chr1:144089214-144091251	ENSG00000224363
21	lnc-PPIAL4B-1	chr1:144301325-144301536	ENSG00000235398
22	lnc-PPIAL4B-1	chr1:144341670-144341756	ENSG00000235398.4
23	lnc-PPIAL4B-4	chr1:144297622-144297896	expRegAs_chr1_13930_-
24	lnc-PPIAL4B-1	chr1:144340526-144340773	NONHSAT005781
25	lnc-FAM72D-3	chr1:144086700-144086911	NONHSAT005763
26	lnc-PPIAL4B-2	chr1:144506277-144506436	ENSG00000236943.1
27	lnc-AL592284.1-3	chr1:144213727-144213778	NONHSAT005770
28	lnc-FAM72D-1	chr1:144089281-144089406	NONHSAT005767
29	lnc-PPIAL4B-3	chr1:144392143-144392429	NONHSAT005791
30	lnc-PPIAL4B-1	chr1:144340526-144340754	ENSG00000235398
31	lnc-PPIAL4B-2	chr1:144521639-144522054	NONHSAT005811
32	lnc-FAM72D-1	chr1:144089058-144089129	NONHSAT005765
33	lnc-PPIAL4B-2	chr1:144480744-144481765	ENSG00000236943.1
34	lnc-PPIAL4B-2	chr1:144481419-144481765	ENSG00000236943.1
35	lnc-PPIAL4B-2	chr1:144481419-144481765	NONHSAT005803
36	lnc-FAM72D-1	chr1:144087482-144087804	NONHSAT005764
37	lnc-PPIAL4B-1	chr1:144340851-144341057	ENSG00000235398
38	lnc-FAM72D-3	chr1:144084411-144084864	NONHSAT005763
39	lnc-PPIAL4B-1	chr1:144301350-144301536	NR_109754
40	lnc-PPIAL4B-1	chr1:144340526-144340593	ENSG00000235398
41	lnc-PPIAL4B-2	chr1:144461309-144461412	ENSG00000236943.1
42	lnc-PPIAL4B-1	chr1:144301190-144301536	NONHSAT005782
43	lnc-PPIAL4B-1	chr1:144339564-144339618	ENSG00000235398
44	lnc-PPIAL4B-2	chr1:144481627-144481765	ENSG00000236943.1
45	lnc-AL592284.1-2	chr1:144534038-144534457	NONHSAT005812
46	lnc-FAM72D-1	chr1:144088423-144088668	NONHSAT005767
47	lnc-PPIAL4B-1	chr1:144340526-144340623	NR_024584
48	lnc-PPIAL4B-1	chr1:144325839-144326185	ENSG00000235398
49	lnc-PPIAL4B-1	chr1:144300512-144301536	NONHSAT005781
50	lnc-PPIAL4B-1	chr1:144341670-144341755	NR_024584

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	NBPF15	hsa-let-7b-5p	chr1:144174551-144174571
2	NBPF15	hsa-let-7b-5p	chr1:144199965-144199985
3	NBPF15	hsa-let-7b-5p	chr1:144166620-144166640

Variant related genes	Relation type
ENSG00000236943	TF binding region
PPIAL4B	TF binding region
ENSG00000271223	TF binding region
RNVU1-4	TF binding region
ENSG00000271644	TF binding region
ENSG00000231360	TF binding region
RNVU1-5	TF binding region
RNU1-59P	TF binding region
ENSG00000224363	TF binding region
NBPF8	TF binding region
LINC00623	TF binding region
ENSG00000236943	CpG island
PPIAL4B	CpG island
ENSG00000271223	CpG island
RNVU1-4	CpG island
ENSG00000271644	CpG island
ENSG00000231360	CpG island
RNVU1-5	CpG island
RNU1-59P	CpG island
ENSG00000224363	CpG island
NBPF8	CpG island
LINC00623	CpG island
ENSG00000116761	chromatin interactions
ENSG00000021776	chromatin interactions
ENSG00000153208	chromatin interactions
ENSG00000139722	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000143570	chromatin interactions
ENSG00000182197	chromatin interactions
ENSG00000267751	chromatin interactions
ENSG00000223380	chromatin interactions
ENSG00000082269	chromatin interactions
ENSG00000136854	chromatin interactions
ENSG00000138600	chromatin interactions
ENSG00000271991	chromatin interactions
ENSG00000170852	chromatin interactions
ENSG00000120738	chromatin interactions
ENSG00000266173	chromatin interactions
ENSG00000159208	chromatin interactions
ENSG00000232151	chromatin interactions
ENSG00000160193	chromatin interactions
ENSG00000115963	chromatin interactions
ENSG00000197622	chromatin interactions
ENSG00000100554	chromatin interactions
ENSG00000272993	chromatin interactions
ENSG00000242663	chromatin interactions
ENSG00000126777	chromatin interactions
ENSG00000128463	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000259708	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000237310	chromatin interactions
ENSG00000138074	chromatin interactions
ENSG00000203497	chromatin interactions
ENSG00000108511	chromatin interactions
ENSG00000113580	chromatin interactions
ENSG00000132142	chromatin interactions
ENSG00000100227	chromatin interactions
ENSG00000164087	chromatin interactions
ENSG00000168010	chromatin interactions
ENSG00000087510	chromatin interactions
ENSG00000226446	chromatin interactions
ENSG00000170633	chromatin interactions
ENSG00000008405	chromatin interactions
ENSG00000207349	chromatin interactions
ENSG00000206344	chromatin interactions
ENSG00000144848	chromatin interactions
ENSG00000176619	chromatin interactions
ENSG00000237188	chromatin interactions
ENSG00000177666	chromatin interactions
ENSG00000125375	chromatin interactions
ENSG00000168040	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000207501	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000258017	chromatin interactions
ENSG00000252656	chromatin interactions
ENSG00000183891	chromatin interactions
ENSG00000087299	chromatin interactions
ENSG00000197019	chromatin interactions
ENSG00000168003	chromatin interactions
ENSG00000072121	chromatin interactions
ENSG00000134001	chromatin interactions
ENSG00000181991	chromatin interactions
ENSG00000160051	chromatin interactions
ENSG00000179119	chromatin interactions
ENSG00000026025	chromatin interactions
ENSG00000136159	chromatin interactions
ENSG00000134717	chromatin interactions
ENSG00000124198	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000151422	chromatin interactions
ENSG00000125753	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000089053	chromatin interactions
ENSG00000092853	chromatin interactions
ENSG00000143458	chromatin interactions
ENSG00000230470	chromatin interactions
ENSG00000143164	chromatin interactions
ENSG00000131791	chromatin interactions
ENSG00000120093	chromatin interactions
ENSG00000111231	chromatin interactions
ENSG00000099622	chromatin interactions
ENSG00000143158	chromatin interactions
ENSG00000105887	chromatin interactions
ENSG00000164040	chromatin interactions
ENSG00000136143	chromatin interactions
ENSG00000234028	chromatin interactions
ENSG00000204856	chromatin interactions
ENSG00000160691	chromatin interactions
ENSG00000204569	chromatin interactions
ENSG00000185024	chromatin interactions
ENSG00000149925	chromatin interactions
ENSG00000150593	chromatin interactions
ENSG00000222724	chromatin interactions
ENSG00000257548	chromatin interactions
ENSG00000145996	chromatin interactions
ENSG00000085872	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000102144	chromatin interactions
ENSG00000180185	chromatin interactions
ENSG00000112305	chromatin interactions
ENSG00000111276	chromatin interactions
ENSG00000261202	chromatin interactions
ENSG00000127483	chromatin interactions
ENSG00000125775	chromatin interactions
ENSG00000162298	chromatin interactions
ENSG00000231721	chromatin interactions
ENSG00000184277	chromatin interactions
ENSG00000113838	chromatin interactions
ENSG00000203814	chromatin interactions
ENSG00000232956	chromatin interactions
ENSG00000185825	chromatin interactions
ENSG00000007944	chromatin interactions
ENSG00000236200	chromatin interactions
ENSG00000171530	chromatin interactions
ENSG00000270141	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000144895	chromatin interactions
ENSG00000115073	chromatin interactions
ENSG00000163399	chromatin interactions
ENSG00000262001	chromatin interactions
ENSG00000120742	chromatin interactions
ENSG00000108264	chromatin interactions
ENSG00000272426	chromatin interactions
ENSG00000108588	chromatin interactions
ENSG00000136451	chromatin interactions
ENSG00000123908	chromatin interactions
ENSG00000202496	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000223473	chromatin interactions
ENSG00000128272	chromatin interactions
ENSG00000092841	chromatin interactions
ENSG00000198231	chromatin interactions
ENSG00000102786	chromatin interactions
ENSG00000175581	chromatin interactions
ENSG00000153094	chromatin interactions
ENSG00000171863	chromatin interactions
ENSG00000106479	chromatin interactions
ENSG00000196204	chromatin interactions
ENSG00000172270	chromatin interactions
ENSG00000234684	chromatin interactions
ENSG00000146066	chromatin interactions
ENSG00000134697	chromatin interactions
ENSG00000133059	chromatin interactions
ENSG00000236943	chromatin interactions
ENSG00000108256	chromatin interactions
ENSG00000252826	chromatin interactions
ENSG00000136144	chromatin interactions
ENSG00000262420	chromatin interactions
ENSG00000117862	chromatin interactions
ENSG00000272755	chromatin interactions
ENSG00000178607	chromatin interactions
ENSG00000134287	chromatin interactions
ENSG00000083838	chromatin interactions
ENSG00000146063	chromatin interactions
ENSG00000110925	chromatin interactions
ENSG00000143384	chromatin interactions
ENSG00000173812	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000207205	chromatin interactions
ENSG00000076003	chromatin interactions
ENSG00000212456	chromatin interactions
ENSG00000133639	chromatin interactions
ENSG00000116863	chromatin interactions
ENSG00000149257	chromatin interactions
ENSG00000249492	chromatin interactions
ENSG00000113387	chromatin interactions
ENSG00000147123	chromatin interactions
ENSG00000067082	chromatin interactions
ENSG00000120306	chromatin interactions
ENSG00000138085	chromatin interactions
ENSG00000138459	chromatin interactions
ENSG00000184009	chromatin interactions
ENSG00000272822	chromatin interactions
ENSG00000129810	chromatin interactions
ENSG00000173207	chromatin interactions
ENSG00000063854	chromatin interactions
ENSG00000175061	chromatin interactions
ENSG00000116830	chromatin interactions
ENSG00000186020	chromatin interactions
ENSG00000048162	chromatin interactions
ENSG00000140403	chromatin interactions
ENSG00000143401	chromatin interactions
ENSG00000147403	chromatin interactions
ENSG00000245904	chromatin interactions
ENSG00000143578	chromatin interactions
ENSG00000118515	chromatin interactions
ENSG00000168439	chromatin interactions
ENSG00000074800	chromatin interactions
ENSG00000178104	chromatin interactions
ENSG00000133398	chromatin interactions
ENSG00000250220	chromatin interactions
ENSG00000146963	chromatin interactions
ENSG00000245888	chromatin interactions
ENSG00000183598	chromatin interactions
ENSG00000135316	chromatin interactions
ENSG00000268172	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000186908	chromatin interactions
ENSG00000207005	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000267598	chromatin interactions
ENSG00000196544	chromatin interactions
ENSG00000166439	chromatin interactions
ENSG00000167280	chromatin interactions
ENSG00000223501	chromatin interactions
ENSG00000185947	chromatin interactions
ENSG00000102996	chromatin interactions
ENSG00000243452	chromatin interactions
ENSG00000273071	chromatin interactions
ENSG00000124193	chromatin interactions
ENSG00000112308	chromatin interactions
ENSG00000150756	chromatin interactions
ENSG00000100219	chromatin interactions
ENSG00000185670	chromatin interactions
ENSG00000167460	chromatin interactions
ENSG00000233527	chromatin interactions
ENSG00000166441	chromatin interactions
ENSG00000126088	chromatin interactions
ENSG00000122884	chromatin interactions
ENSG00000079999	chromatin interactions
ENSG00000119912	chromatin interactions
ENSG00000007968	chromatin interactions
ENSG00000269501	chromatin interactions
ENSG00000063177	chromatin interactions
ENSG00000123091	chromatin interactions
ENSG00000169189	chromatin interactions
ENSG00000065970	chromatin interactions
ENSG00000091527	chromatin interactions
ENSG00000132466	chromatin interactions
ENSG00000174446	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000115415	chromatin interactions
ENSG00000268032	chromatin interactions
ENSG00000230832	chromatin interactions
ENSG00000160194	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000182872	chromatin interactions
ENSG00000171067	chromatin interactions
ENSG00000113441	chromatin interactions
ENSG00000231500	chromatin interactions
ENSG00000117054	chromatin interactions
ENSG00000105137	chromatin interactions
ENSG00000092531	chromatin interactions
ENSG00000100354	chromatin interactions
ENSG00000256982	chromatin interactions

Extended variants
information (count: 2584 )
Associated
traits (count: 181 )

Variant overlapped rSNPs/rCNVs (count:2584 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56327454	chr1:144033939-144033940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201924384	chr1:144033953-144033954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs587640272	chr1:144033988-144033989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149012262	chr1:144033992-144033993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs587713782	chr1:144034009-144034010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs587596363	chr1:144034035-144034036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs587665728	chr1:144034045-144034046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs587749862	chr1:144034165-144034166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs28700268	chr1:144034172-144034173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2987947	chr1:144034195-144034196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs587678653	chr1:144034200-144034201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372772776	chr1:144034208-144034209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs587758323	chr1:144034226-144034227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564133471	chr1:144034233-144034234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs587627133	chr1:144034319-144034320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199547737	chr1:144034324-144034325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2987948	chr1:144034355-144034356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs587690213	chr1:144034367-144034368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs587742219	chr1:144034394-144034395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374581204	chr1:144034404-144034405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs587621683	chr1:144034449-144034450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184162051	chr1:144034558-144034559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377566525	chr1:144034565-144034566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376824652	chr1:144034574-144034575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs587653145	chr1:144034640-144034641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs587687589	chr1:144034735-144034736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs587766177	chr1:144034801-144034802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12028954	chr1:144034888-144034889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs587717091	chr1:144034895-144034896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs587595608	chr1:144034918-144034919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200389167	chr1:144034968-144034969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs587648373	chr1:144034978-144034979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs587725457	chr1:144034993-144034994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201476995	chr1:144035017-144035018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs587621329	chr1:144035035-144035036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs587700994	chr1:144035112-144035113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199761432	chr1:144035118-144035119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs587756462	chr1:144035119-144035120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs587611920	chr1:144035253-144035254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10903177	chr1:144035265-144035266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114265886	chr1:144035272-144035273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587659754	chr1:144035301-144035302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs587745379	chr1:144035314-144035315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs587613180	chr1:144035479-144035480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs587677326	chr1:144035572-144035573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587732804	chr1:144035588-144035589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs587628725	chr1:144035591-144035592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112130457	chr1:144035636-144035637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs587685793	chr1:144035647-144035648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs587758833	chr1:144035661-144035662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:181)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17142309	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Williams Syndrome	20824207	CNVD
Tetralogy of Fallot	22912587	CNVD
Autism	18522746	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Schizophrenia	19197363	CNVD
Dyslexia	22102821	CNVD
Breast cancer	22522925	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	19805367	CNVD
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD
Autism	20841430	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Schizophrenia	19843651	CNVD
Cancer	17440070	CNVD

Chromatin state (count:1454 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144016800-144037200	Weak transcription	A549	lung
2	chr1:144017600-144037000	Weak transcription	Fetal Stomach	stomach
3	chr1:144017600-144037200	Weak transcription	Adipose Nuclei	Adipose
4	chr1:144019200-144037200	Weak transcription	HepG2	liver
5	chr1:144019400-144036400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:144019400-144037200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:144019400-144038600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:144019400-144048600	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:144019600-144037800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:144028000-144036400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:144029200-144038800	Weak transcription	NH-A	brain
12	chr1:144029600-144036400	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:144029600-144036400	Weak transcription	HSMMtube	muscle
14	chr1:144029600-144037200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:144029600-144037400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:144029600-144038000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:144029600-144039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:144029600-144044400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:144029600-144044800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:144029600-144046600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:144029600-144060200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:144030200-144053000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr1:144031800-144037200	Weak transcription	Hela-S3	cervix
24	chr1:144033400-144034200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:144033400-144034200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:144034200-144036400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:144034200-144054000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:144036000-144036800	Enhancers	Right Atrium	heart
29	chr1:144036000-144037600	Enhancers	Fetal Heart	heart
30	chr1:144036400-144036600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:144036400-144037600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:144036400-144037600	Enhancers	HSMMtube	muscle
33	chr1:144036400-144037800	Enhancers	Fetal Muscle Leg	muscle
34	chr1:144036600-144037200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:144037200-144037400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:144037200-144037400	Enhancers	Fetal Stomach	stomach
37	chr1:144037200-144037400	Enhancers	A549	lung
38	chr1:144037200-144037600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:144037200-144037600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:144037200-144037600	Enhancers	Adipose Nuclei	Adipose
41	chr1:144037200-144037600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr1:144037200-144037600	Enhancers	Hela-S3	cervix
43	chr1:144037200-144037600	Enhancers	HepG2	liver
44	chr1:144037200-144037600	Enhancers	HSMM	muscle
45	chr1:144037400-144037600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:144037600-144048400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:144043600-144044400	Weak transcription	NH-A	brain
48	chr1:144043800-144044200	Active TSS	Placenta	Placenta
49	chr1:144044000-144044400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:144044000-144044400	Enhancers	Right Atrium	heart

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