Variant report

Variant	nsv831303
Chromosome Location	chr1:144523643-144617215
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2550)
CpG islands
(count:1525)
Chromatin interactive
region (count:303)
LncRNA
region (count:60)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2550 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:144535027-144535473	K562	blood:	n/a	n/a
2	ARID3A	chr1:144533334-144534462	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:144537463-144537485	K562	blood:	n/a	n/a
4	ARID3A	chr1:144532762-144534541	K562	blood:	n/a	n/a
5	ARID3A	chr1:144532296-144532499	K562	blood:	n/a	n/a
6	ARID3A	chr1:144535206-144535581	HepG2	liver:	n/a	n/a
7	ATF1	chr1:144531464-144531591	K562	blood:	n/a	n/a
8	ATF1	chr1:144539279-144539325	K562	blood:	n/a	n/a
9	ATF1	chr1:144532323-144532462	K562	blood:	n/a	n/a
10	ATF1	chr1:144536174-144536392	K562	blood:	n/a	n/a
11	ATF1	chr1:144528291-144528404	K562	blood:	n/a	n/a
12	ATF1	chr1:144535220-144535590	K562	blood:	n/a	n/a
13	ATF1	chr1:144533100-144534496	K562	blood:	n/a	n/a
14	ATF2	chr1:144533459-144534584	GM12878	blood:	n/a	n/a
15	ATF2	chr1:144533212-144534565	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr1:144533458-144534609	GM12878	blood:	n/a	n/a
17	ATF2	chr1:144533382-144534573	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF3	chr1:144533095-144534612	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	chr1:144533542-144534429	K562	blood:	n/a	chr1:144533784-144533797 chr1:144533946-144533955 chr1:144533783-144533798
21	ATF3	chr1:144533135-144534621	A549	lung:	n/a	chr1:144533784-144533797 chr1:144533946-144533955 chr1:144533783-144533798
22	BACH1	chr1:144534872-144535121	K562	blood:	n/a	n/a
23	BACH1	chr1:144532785-144534560	K562	blood:	n/a	n/a
24	BACH1	chr1:144532184-144532396	K562	blood:	n/a	n/a
25	BACH1	chr1:144532809-144534499	H1-hESC	embryonic stem cell:	n/a	n/a
26	BATF	chr1:144614551-144615001	GM12878	blood:	n/a	n/a
27	BATF	chr1:144583193-144583534	GM12878	blood:	n/a	n/a
28	BATF	chr1:144594992-144595236	GM12878	blood:	n/a	n/a
29	BATF	chr1:144594146-144594619	GM12878	blood:	n/a	n/a
30	BATF	chr1:144583250-144583514	GM12878	blood:	n/a	n/a
31	BATF	chr1:144615131-144615468	GM12878	blood:	n/a	n/a
32	BATF	chr1:144614537-144614797	GM12878	blood:	n/a	n/a
33	BATF	chr1:144604582-144604786	GM12878	blood:	n/a	n/a
34	BATF	chr1:144572712-144572908	GM12878	blood:	n/a	n/a
35	BATF	chr1:144533655-144534561	GM12878	blood:	n/a	n/a
36	BATF	chr1:144533969-144534491	GM12878	blood:	n/a	n/a
37	BATF	chr1:144593349-144593687	GM12878	blood:	n/a	n/a
38	BATF	chr1:144570308-144570462	GM12878	blood:	n/a	n/a
39	BATF	chr1:144615010-144615375	GM12878	blood:	n/a	n/a
40	BATF	chr1:144567749-144568256	GM12878	blood:	n/a	n/a
41	BATF	chr1:144567866-144568091	GM12878	blood:	n/a	n/a
42	BCL11A	chr1:144615162-144615415	GM12878	blood:	n/a	n/a
43	BCL11A	chr1:144594234-144594691	GM12878	blood:	n/a	n/a
44	BCL11A	chr1:144588906-144589083	GM12878	blood:	n/a	n/a
45	BCL11A	chr1:144572660-144573001	GM12878	blood:	n/a	chr1:144572970-144572979
46	BCL11A	chr1:144594908-144595186	GM12878	blood:	n/a	n/a
47	BCL11A	chr1:144592484-144592707	GM12878	blood:	n/a	n/a
48	BCL11A	chr1:144533682-144534616	GM12878	blood:	n/a	chr1:144533775-144533783
49	BCL11A	chr1:144523444-144523718	GM12878	blood:	n/a	n/a
50	BCL11A	chr1:144614491-144614868	GM12878	blood:	n/a	n/a

(count:1525 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:144539026-144539076	ECC-1	luminal epithelium:	n/a
2	chr1:144596061-144596111	SK-N-SH_RA	brain:	n/a
3	chr1:144594006-144594056	H1-hESC	embryonic stem cell:	embryo
4	chr1:144596061-144596111	MCF10A-Er-Src	breast:	n/a
5	chr1:144537544-144537594	HUVEC	blood vessel:	n/a
6	chr1:144533844-144533894	NHBE	bronchial:	n/a
7	chr1:144595718-144595768	T-47D	breast:	n/a
8	chr1:144594107-144594157	HRPEpiC	eye:	n/a
9	chr1:144594107-144594157	Caco-2	colon:	n/a
10	chr1:144567670-144567720	HAEpiC	amniotic membrane:	n/a
11	chr1:144533844-144533894	IMR90	lung:	fetal
12	chr1:144615272-144615322	AG09309	skin:	n/a
13	chr1:144533951-144534001	SK-N-MC	brain:	n/a
14	chr1:144594107-144594157	H1-hESC	embryonic stem cell:	embryo
15	chr1:144567670-144567720	NHBE	bronchial:	n/a
16	chr1:144612646-144612696	HRE	kidney:	n/a
17	chr1:144593341-144593391	SAEC	small airway:	n/a
18	chr1:144615272-144615322	GM12878	blood:	n/a
19	chr1:144533778-144533828	GM19239	blood:	n/a
20	chr1:144615272-144615322	K562	blood:	n/a
21	chr1:144612646-144612696	AG04450	lung:	fetal
22	chr1:144533778-144533828	HNPCEpiC	eye:	n/a
23	chr1:144596061-144596111	NH-A	brain:	n/a
24	chr1:144592392-144592442	BE2_C	brain:	n/a
25	chr1:144592392-144592442	GM19239	blood:	n/a
26	chr1:144534187-144534237	GM19239	blood:	n/a
27	chr1:144534187-144534237	Hela-S3	cervix:	n/a
28	chr1:144595718-144595768	PFSK-1	brain:	n/a
29	chr1:144594107-144594157	PrEC	prostate:	n/a
30	chr1:144593903-144593953	ProgFib	skin:	n/a
31	chr1:144612358-144612408	NB4	blood:	n/a
32	chr1:144537544-144537594	NB4	blood:	n/a
33	chr1:144594006-144594056	ECC-1	luminal epithelium:	n/a
34	chr1:144593903-144593953	HUVEC	blood vessel:	n/a
35	chr1:144593341-144593391	GM12892	blood:	n/a
36	chr1:144593903-144593953	GM19239	blood:	n/a
37	chr1:144594006-144594056	A549	lung:	n/a
38	chr1:144530736-144530786	GM06990	blood:	n/a
39	chr1:144530736-144530786	BE2_C	brain:	n/a
40	chr1:144596061-144596111	AG10803	skin:	n/a
41	chr1:144592392-144592442	A549	lung:	n/a
42	chr1:144534187-144534237	NB4	blood:	n/a
43	chr1:144597135-144597185	AG10803	skin:	n/a
44	chr1:144533778-144533828	ovcar-3	ovarian:	n/a
45	chr1:144524229-144524279	GM12878	blood:	n/a
46	chr1:144533861-144533911	BJ	skin:	n/a
47	chr1:144597135-144597185	SK-N-MC	brain:	n/a
48	chr1:144534187-144534237	GM06990	blood:	n/a
49	chr1:144615272-144615322	SK-N-MC	brain:	n/a
50	chr1:144537544-144537594	NHBE	bronchial:	n/a

(count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Distal block	Cell Line	Cell type
1	chr1:144533626..144534133-chr12:123379885..123380859,2	Hela-S3	cervix:
2	chr1:144533721..144534392-chr14:68282945..68283543,2	Hela-S3	cervix:
3	chr1:144533568..144534348-chr13:48611630..48612402,3	Hela-S3	cervix:
4	chr1:144533458..144534448-chr1:149194159..149194696,17	HCT-116	colon:
5	chr1:144533649..144534390-chr17:79479085..79479816,3	Hela-S3	cervix:
6	chr1:144533506..144534133-chr11:72524969..72526154,3	Hela-S3	cervix:
7	chr1:120428374..120430929-chr1:144532739..144535945,3	K562	blood:
8	chr1:144533744..144537008-chr1:149856854..149861459,6	K562	blood:
9	chr1:144530771..144535863-chr1:144988447..145007040,21	K562	blood:
10	chr1:144533626..144534143-chr6:31165207..31165768,2	Hela-S3	cervix:
11	chr1:144547515..144550528-chr2:5777632..5780972,4	MCF-7	breast:
12	chr1:144532552..144536277-chr1:145382371..145384454,4	K562	blood:
13	chr1:144566036..144568858-chr1:149222714..149224750,2	MCF-7	breast:
14	chr1:144532556..144534353-chr1:147805518..147808374,3	K562	blood:
15	chr1:144533558..144534602-chr19:571405..572693,3	Hela-S3	cervix:
16	chr1:144533511..144534156-chr5:175815538..175816077,2	Hela-S3	cervix:
17	chr1:144533721..144534656-chr12:121837654..121838564,2	Hela-S3	cervix:
18	chr1:144527325..144537192-chr1:149221188..149227183,106	K562	blood:
19	chr1:144533169..144534313-chr11:65266374..65267027,4	Hela-S3	cervix:
20	chr1:144538349..144541013-chr1:144548761..144550305,2	K562	blood:
21	chr1:144533948..144534472-chr20:55204216..55204868,2	Hela-S3	cervix:
22	chr1:144542148..144544769-chr1:144547258..144549034,2	K562	blood:
23	chr1:144545436..144547669-chr1:149222363..149225506,3	K562	blood:
24	chr1:144531583..144535759-chr1:149193159..149196806,32	K562	blood:
25	chr1:144536093..144537684-chr2:5773800..5775506,2	K562	blood:
26	chr1:144533694..144534748-chr16:27279657..27280556,3	Hela-S3	cervix:
27	chr1:144533945..144534883-chr3:133292589..133293471,2	Hela-S3	cervix:
28	chr1:144533741..144534342-chr17:35766638..35767486,2	Hela-S3	cervix:
29	chr1:144534221..144535752-chr20:23402845..23404345,2	K562	blood:
30	chr1:17229738..17235929-chr1:144531729..144537089,21	K562	blood:
31	chr1:144533809..144535358-chr1:149604555..149606316,2	K562	blood:
32	chr1:144541146..144543284-chr1:144543970..144546879,2	K562	blood:
33	chr1:23857219..23858177-chr1:144534191..144535004,2	Hela-S3	cervix:
34	chr1:144533564..144534379-chr17:56065165..56066091,2	HCT-116	colon:
35	chr1:144532687..144536786-chr1:144548928..144552960,5	K562	blood:
36	chr1:44172488..44173056-chr1:144534218..144534718,2	Hela-S3	cervix:
37	chr1:8938189..8938751-chr1:144533626..144534203,2	Hela-S3	cervix:
38	chr1:144533528..144534166-chr17:77070886..77071487,2	HCT-116	colon:
39	chr1:144533567..144534586-chr1:184377390..184378390,5	HCT-116	colon:
40	chr1:144532845..144535745-chr1:144588641..144591361,2	K562	blood:
41	chr1:144533692..144534204-chr3:112279831..112280562,2	Hela-S3	cervix:
42	chr1:144534065..144535931-chr1:145036199..145038965,3	K562	blood:
43	chr1:144533860..144534719-chr6:30584651..30585374,5	Hela-S3	cervix:
44	chr1:144534195..144534701-chr7:5566117..5567103,2	Hela-S3	cervix:
45	chr1:144533818..144534391-chr15:42787602..42788413,2	Hela-S3	cervix:
46	chr1:17229738..17236634-chr1:144531729..144537089,21	K562	blood:
47	chr1:144525541..144527808-chr1:149202797..149204434,2	K562	blood:
48	chr1:144533730..144534263-chr1:153939823..153940392,2	Hela-S3	cervix:
49	chr1:144539250..144543417-chr1:149221777..149225328,4	MCF-7	breast:
50	chr1:144533704..144534341-chr1:167906119..167906857,2	Hela-S3	cervix:

(count:60 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL592284.1-1	chr1:144606938-144607061	ENSG00000225241
2	lnc-AL592284.1-2	chr1:144544950-144545289	NONHSAT005812
3	lnc-AL592284.1-1	chr1:144593907-144593936	ENSG00000225241
4	lnc-AL592284.1-1	chr1:144606369-144606510	ENSG00000225241
5	lnc-AL592284.1-1	chr1:144606369-144606510	ENSG00000225241
6	lnc-AL592284.1-1	chr1:144614959-144615303	NR_102404
7	lnc-AL592284.1-1	chr1:144598512-144598780	NONHSAT005825
8	lnc-AL592284.1-1	chr1:144598512-144598780	NONHSAT005823
9	lnc-AL592284.1-1	chr1:144614840-144614993	ENSG00000225241
10	lnc-AL592284.1-1	chr1:144614892-144615303	NONHSAT139893
11	lnc-AL592284.1-1	chr1:144617150-144617252	ENSG00000225241
12	lnc-AL592284.1-1	chr1:144612349-144612562	NONHSAT005823
13	lnc-AL592284.1-1	chr1:144604478-144604508	ENSG00000225241
14	lnc-AL592284.1-1	chr1:144614554-144614733	ENSG00000225241
15	lnc-AL592284.1-1	chr1:144598512-144598780	NONHSAT005824
16	lnc-AL592284.1-1	chr1:144598655-144598780	ENSG00000225241
17	lnc-AL592284.1-1	chr1:144617150-144617252	ENSG00000225241
18	lnc-AL592284.1-1	chr1:144598614-144598780	ENSG00000225241
19	lnc-AL592284.1-1	chr1:144604478-144604508	ENSG00000225241
20	lnc-AL592284.1-1	chr1:144614840-144614993	ENSG00000225241
21	lnc-AL592284.1-1	chr1:144606129-144606278	ENSG00000225241
22	lnc-AL592284.1-1	chr1:144615096-144615303	ENSG00000225241
23	lnc-AL592284.1-1	chr1:144596451-144596473	NONHSAT005825
24	lnc-AL592284.1-1	chr1:144596281-144596473	NONHSAT005824
25	lnc-AL592284.1-1	chr1:144598651-144598780	ENSG00000225241
26	lnc-AL592284.1-1	chr1:144612349-144612599	ENSG00000225241
27	lnc-AL592284.1-1	chr1:144606369-144606510	ENSG00000225241
28	lnc-AL592284.1-1	chr1:144615096-144615303	ENSG00000225241
29	lnc-AL592284.1-2	chr1:144534038-144534457	NONHSAT005812
30	lnc-AL592284.1-1	chr1:144606838-144607342	NONHSAT005826
31	lnc-AL592284.1-1	chr1:144598512-144598780	ENSG00000225241
32	lnc-AL592284.1-1	chr1:144606838-144606945	NONHSAT005825
33	lnc-AL592284.1-1	chr1:144615096-144615303	ENSG00000225241
34	lnc-AL592284.1-1	chr1:144615096-144615303	ENSG00000225241
35	lnc-AL592284.1-1	chr1:144606369-144606562	NONHSAT005824
36	lnc-AL592284.1-1	chr1:144617150-144617252	ENSG00000225241
37	lnc-AL592284.1-1	chr1:144604410-144604508	ENSG00000225241
38	lnc-AL592284.1-1	chr1:144607095-144607547	ENSG00000225241
39	lnc-AL592284.1-1	chr1:144604417-144604508	ENSG00000225241
40	lnc-AL592284.1-1	chr1:144606369-144606510	NONHSAT005822
41	lnc-AL592284.1-1	chr1:144595832-144595952	NONHSAT005822
42	lnc-AL592284.1-1	chr1:144614388-144614998	ENSG00000225241
43	lnc-AL592284.1-1	chr1:144598512-144598780	NONHSAT005822
44	lnc-AL592284.1-1	chr1:144614959-144615303	NR_102405
45	lnc-AL592284.1-1	chr1:144606369-144606510	NONHSAT005823
46	lnc-AL592284.1-1	chr1:144606369-144606510	NONHSAT005825
47	lnc-AL592284.1-1	chr1:144598512-144598780	ENSG00000225241
48	lnc-AL592284.1-1	chr1:144615131-144615303	ENSG00000225241
49	lnc-AL592284.1-1	chr1:144617150-144617252	NR_102404
50	lnc-AL592284.1-1	chr1:144615096-144615303	ENSG00000225241

No data

Variant related genes	Relation type
PFN1P2	TF binding region
RNU1-59P	TF binding region
ENSG00000225241	TF binding region
ENSG00000236943	TF binding region
PFN1P2	CpG island
RNU1-59P	CpG island
ENSG00000225241	CpG island
ENSG00000236943	CpG island
ENSG00000146066	chromatin interactions
ENSG00000186908	chromatin interactions
ENSG00000174446	chromatin interactions
ENSG00000102786	chromatin interactions
ENSG00000222724	chromatin interactions
ENSG00000234684	chromatin interactions
ENSG00000243452	chromatin interactions
ENSG00000108511	chromatin interactions
ENSG00000183598	chromatin interactions
ENSG00000168010	chromatin interactions
ENSG00000144848	chromatin interactions
ENSG00000100219	chromatin interactions
ENSG00000257548	chromatin interactions
ENSG00000140403	chromatin interactions
ENSG00000236200	chromatin interactions
ENSG00000185947	chromatin interactions
ENSG00000118515	chromatin interactions
ENSG00000136143	chromatin interactions
ENSG00000135316	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000074800	chromatin interactions
ENSG00000185670	chromatin interactions
ENSG00000128272	chromatin interactions
ENSG00000146063	chromatin interactions
ENSG00000145996	chromatin interactions
ENSG00000136159	chromatin interactions
ENSG00000182197	chromatin interactions
ENSG00000166439	chromatin interactions
ENSG00000231500	chromatin interactions
ENSG00000223501	chromatin interactions
ENSG00000252656	chromatin interactions
ENSG00000102144	chromatin interactions
ENSG00000250220	chromatin interactions
ENSG00000125753	chromatin interactions
ENSG00000119912	chromatin interactions
ENSG00000268172	chromatin interactions
ENSG00000146963	chromatin interactions
ENSG00000163399	chromatin interactions
ENSG00000113838	chromatin interactions
ENSG00000270141	chromatin interactions
ENSG00000143164	chromatin interactions
ENSG00000203814	chromatin interactions
ENSG00000113580	chromatin interactions
ENSG00000207501	chromatin interactions
ENSG00000223473	chromatin interactions
ENSG00000230832	chromatin interactions
ENSG00000143570	chromatin interactions
ENSG00000272755	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000271991	chromatin interactions
ENSG00000143384	chromatin interactions
ENSG00000170852	chromatin interactions
ENSG00000164087	chromatin interactions
ENSG00000131791	chromatin interactions
ENSG00000100227	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000252826	chromatin interactions
ENSG00000183891	chromatin interactions
ENSG00000116761	chromatin interactions
ENSG00000226446	chromatin interactions
ENSG00000083838	chromatin interactions
ENSG00000072121	chromatin interactions
ENSG00000120093	chromatin interactions
ENSG00000256982	chromatin interactions
ENSG00000136854	chromatin interactions
ENSG00000186020	chromatin interactions
ENSG00000245904	chromatin interactions
ENSG00000008405	chromatin interactions
ENSG00000242663	chromatin interactions
ENSG00000124193	chromatin interactions
ENSG00000089053	chromatin interactions
ENSG00000173207	chromatin interactions
ENSG00000108588	chromatin interactions
ENSG00000262420	chromatin interactions
ENSG00000138459	chromatin interactions
ENSG00000267598	chromatin interactions
ENSG00000198231	chromatin interactions
ENSG00000167280	chromatin interactions
ENSG00000261202	chromatin interactions
ENSG00000160691	chromatin interactions
ENSG00000206344	chromatin interactions
ENSG00000273071	chromatin interactions
ENSG00000147123	chromatin interactions
ENSG00000102996	chromatin interactions
ENSG00000204856	chromatin interactions
ENSG00000115415	chromatin interactions
ENSG00000212456	chromatin interactions
ENSG00000116830	chromatin interactions
ENSG00000128463	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000110925	chromatin interactions
ENSG00000162298	chromatin interactions
ENSG00000178607	chromatin interactions
ENSG00000160194	chromatin interactions
ENSG00000166441	chromatin interactions
ENSG00000048162	chromatin interactions
ENSG00000087299	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000112305	chromatin interactions
ENSG00000108264	chromatin interactions
ENSG00000167460	chromatin interactions
ENSG00000133398	chromatin interactions
ENSG00000185024	chromatin interactions
ENSG00000092841	chromatin interactions
ENSG00000232956	chromatin interactions
ENSG00000185825	chromatin interactions
ENSG00000134001	chromatin interactions
ENSG00000138074	chromatin interactions
ENSG00000153208	chromatin interactions
ENSG00000180185	chromatin interactions
ENSG00000223380	chromatin interactions
ENSG00000067082	chromatin interactions
ENSG00000144895	chromatin interactions
ENSG00000112308	chromatin interactions
ENSG00000129810	chromatin interactions
ENSG00000197622	chromatin interactions
ENSG00000125775	chromatin interactions
ENSG00000065970	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000143158	chromatin interactions
ENSG00000150593	chromatin interactions
ENSG00000138600	chromatin interactions
ENSG00000079999	chromatin interactions
ENSG00000087510	chromatin interactions
ENSG00000115963	chromatin interactions
ENSG00000258017	chromatin interactions
ENSG00000272426	chromatin interactions
ENSG00000120306	chromatin interactions
ENSG00000249492	chromatin interactions
ENSG00000184009	chromatin interactions
ENSG00000127483	chromatin interactions
ENSG00000272993	chromatin interactions
ENSG00000063177	chromatin interactions
ENSG00000143401	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000132466	chromatin interactions
ENSG00000113441	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000262001	chromatin interactions
ENSG00000143458	chromatin interactions
ENSG00000245888	chromatin interactions
ENSG00000092531	chromatin interactions
ENSG00000175061	chromatin interactions
ENSG00000085872	chromatin interactions
ENSG00000203497	chromatin interactions
ENSG00000139722	chromatin interactions
ENSG00000126777	chromatin interactions
ENSG00000133059	chromatin interactions
ENSG00000082269	chromatin interactions
ENSG00000100554	chromatin interactions
ENSG00000105887	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000116863	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000233527	chromatin interactions
ENSG00000164040	chromatin interactions
ENSG00000202496	chromatin interactions
ENSG00000063854	chromatin interactions
ENSG00000120738	chromatin interactions
ENSG00000204569	chromatin interactions
ENSG00000181991	chromatin interactions
ENSG00000177666	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000171530	chromatin interactions
ENSG00000259708	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000237188	chromatin interactions
ENSG00000134287	chromatin interactions
ENSG00000170633	chromatin interactions
ENSG00000151422	chromatin interactions
ENSG00000149925	chromatin interactions
ENSG00000159208	chromatin interactions
ENSG00000132142	chromatin interactions
ENSG00000007968	chromatin interactions
ENSG00000184277	chromatin interactions
ENSG00000269501	chromatin interactions
ENSG00000007944	chromatin interactions
ENSG00000099622	chromatin interactions
ENSG00000230470	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000100354	chromatin interactions
ENSG00000160193	chromatin interactions
ENSG00000179119	chromatin interactions
ENSG00000197019	chromatin interactions
ENSG00000236943	chromatin interactions
ENSG00000021776	chromatin interactions
ENSG00000123091	chromatin interactions
ENSG00000153094	chromatin interactions
ENSG00000234028	chromatin interactions
ENSG00000143578	chromatin interactions
ENSG00000136451	chromatin interactions
ENSG00000134697	chromatin interactions
ENSG00000171863	chromatin interactions
ENSG00000207005	chromatin interactions
ENSG00000092853	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000150756	chromatin interactions
ENSG00000113387	chromatin interactions
ENSG00000149257	chromatin interactions
ENSG00000231721	chromatin interactions
ENSG00000173812	chromatin interactions
ENSG00000207349	chromatin interactions
ENSG00000196544	chromatin interactions
ENSG00000120742	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000124198	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000182872	chromatin interactions
ENSG00000266173	chromatin interactions
ENSG00000122884	chromatin interactions
ENSG00000160051	chromatin interactions
ENSG00000178104	chromatin interactions
ENSG00000106479	chromatin interactions
ENSG00000117054	chromatin interactions
ENSG00000272822	chromatin interactions
ENSG00000237310	chromatin interactions
ENSG00000196204	chromatin interactions
ENSG00000138085	chromatin interactions
ENSG00000172270	chromatin interactions
ENSG00000134717	chromatin interactions
ENSG00000168040	chromatin interactions
ENSG00000105137	chromatin interactions
ENSG00000026025	chromatin interactions
ENSG00000111231	chromatin interactions
ENSG00000232151	chromatin interactions
ENSG00000136144	chromatin interactions
ENSG00000108256	chromatin interactions
ENSG00000091527	chromatin interactions
ENSG00000076003	chromatin interactions
ENSG00000171067	chromatin interactions
ENSG00000169189	chromatin interactions
ENSG00000125375	chromatin interactions
ENSG00000115073	chromatin interactions
ENSG00000168439	chromatin interactions
ENSG00000267751	chromatin interactions
ENSG00000133639	chromatin interactions
ENSG00000168003	chromatin interactions
ENSG00000126088	chromatin interactions
ENSG00000268032	chromatin interactions
ENSG00000147403	chromatin interactions
ENSG00000123908	chromatin interactions
ENSG00000207205	chromatin interactions
ENSG00000175581	chromatin interactions
ENSG00000111276	chromatin interactions
ENSG00000117862	chromatin interactions
ENSG00000176619	chromatin interactions

Extended variants
information (count: 3150 )
Associated
traits (count: 167 )

Variant overlapped rSNPs/rCNVs (count:3150 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587739197	chr1:144523731-144523732	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs375250346	chr1:144523781-144523782	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs200914892	chr1:144523834-144523835	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs587609938	chr1:144523843-144523844	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs28860556	chr1:144523887-144523888	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs200662917	chr1:144523941-144523942	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs369171312	chr1:144523996-144523997	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs587694368	chr1:144524027-144524028	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs11488528	chr1:144524043-144524044	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs61802982	chr1:144524048-144524049	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs369472803	chr1:144524165-144524166	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs61802983	chr1:144524179-144524180	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs11488529	chr1:144524197-144524198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3979726	chr1:144524208-144524209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201489552	chr1:144524259-144524260	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs28883332	chr1:144524319-144524320	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs9441110	chr1:144524362-144524363	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs28883354	chr1:144524390-144524391	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs199745170	chr1:144524468-144524469	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs587672700	chr1:144524519-144524520	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs587707065	chr1:144524563-144524564	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs587774915	chr1:144524603-144524604	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs2949601	chr1:144524624-144524625	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs148077316	chr1:144524626-144524627	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs59776643	chr1:144524650-144524651	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs587755453	chr1:144524689-144524690	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs28817979	chr1:144524753-144524754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28787672	chr1:144524771-144524772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs587649256	chr1:144524779-144524780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11261222	chr1:144524781-144524782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs587612534	chr1:144524794-144524795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs587669352	chr1:144524801-144524802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61802985	chr1:144524810-144524811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs3009836	chr1:144524823-144524824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs587605143	chr1:144524829-144524830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs587658880	chr1:144524870-144524871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189261210	chr1:144524880-144524881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28799722	chr1:144524891-144524892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181092963	chr1:144524912-144524913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11261223	chr1:144524969-144524970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs185743313	chr1:144524976-144524977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145995455	chr1:144524992-144524993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375661997	chr1:144525051-144525052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs587707199	chr1:144525059-144525060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61802986	chr1:144525067-144525068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs587775036	chr1:144525074-144525075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs587639859	chr1:144525140-144525141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs587700319	chr1:144525147-144525148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28868607	chr1:144525184-144525185	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
50	rs9441113	chr1:144525199-144525200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:167)

Disease	PMID	Source
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
Wilms tumour	21544195	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
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	19197363	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Schizophrenia	19843651	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1954 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144521200-144530200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:144521600-144528200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:144521600-144529200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:144521800-144529200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr1:144522000-144529200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:144522000-144532800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:144526600-144526800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:144527600-144529400	Enhancers	Psoas Muscle	Psoas
9	chr1:144528200-144528400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr1:144528200-144528600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:144528200-144528800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:144528200-144528800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:144528200-144528800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:144528200-144528800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr1:144528200-144529000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:144528200-144529000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:144528200-144529000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:144528200-144530800	Enhancers	HMEC	breast
19	chr1:144528400-144528600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:144528400-144528600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:144528400-144528800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr1:144528400-144528800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:144528400-144528800	Enhancers	HSMMtube	muscle
24	chr1:144528400-144529000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:144528400-144529000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:144528400-144529400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:144528400-144530400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:144528600-144528800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:144528600-144528800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:144528600-144529200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:144528600-144530400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:144528800-144531200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:144528800-144531400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:144528800-144532800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:144528800-144532800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:144528800-144532800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:144528800-144533200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:144528800-144533200	Weak transcription	HSMMtube	muscle
39	chr1:144528800-144533800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:144529000-144529600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr1:144529000-144532200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr1:144529000-144532800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:144529000-144532800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr1:144529000-144533000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:144529000-144533400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:144529200-144529400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:144529200-144529400	Enhancers	Primary T cells fromperipheralblood	blood
48	chr1:144529200-144529400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:144529200-144529400	Bivalent Enhancer	Esophagus	oesophagus
50	chr1:144529200-144529400	Bivalent Enhancer	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links