Variant report

Variant	esv18080
Chromosome Location	chr1:149622963-149801822
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2706)
CpG islands
(count:2808)
Chromatin interactive
region (count:28)
LncRNA
region (count:65)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:2706 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:149748718-149748918	K562	blood:	n/a	n/a
2	ARID3A	chr1:149764085-149764195	K562	blood:	n/a	n/a
3	ARID3A	chr1:149684007-149684371	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:149680090-149680394	K562	blood:	n/a	n/a
5	ARID3A	chr1:149658538-149658730	K562	blood:	n/a	n/a
6	ARID3A	chr1:149783972-149784010	K562	blood:	n/a	n/a
7	ARID3A	chr1:149764146-149764192	HepG2	liver:	n/a	n/a
8	ARID3A	chr1:149747121-149747405	K562	blood:	n/a	n/a
9	ARID3A	chr1:149684047-149684303	K562	blood:	n/a	n/a
10	ATF1	chr1:149785250-149785260	K562	blood:	n/a	n/a
11	ATF1	chr1:149783825-149784193	K562	blood:	n/a	n/a
12	ATF1	chr1:149658516-149658757	K562	blood:	n/a	n/a
13	ATF1	chr1:149747159-149747411	K562	blood:	n/a	n/a
14	ATF2	chr1:149683987-149684400	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr1:149783745-149784262	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr1:149784707-149784912	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr1:149783626-149784089	GM12878	blood:	n/a	n/a
18	ATF2	chr1:149683980-149684475	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr1:149783642-149784320	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF3	chr1:149679963-149680389	K562	blood:	n/a	n/a
21	ATF3	chr1:149759342-149759524	K562	blood:	n/a	n/a
22	ATF3	chr1:149664047-149664500	K562	blood:	n/a	n/a
23	ATF3	chr1:149680102-149680402	HCT-116	colon:	n/a	n/a
24	ATF3	chr1:149683968-149684507	A549	lung:	n/a	n/a
25	ATF3	chr1:149680115-149680371	HCT-116	colon:	n/a	n/a
26	ATF3	chr1:149711653-149712227	A549	lung:	n/a	n/a
27	ATF3	chr1:149783628-149783929	A549	lung:	n/a	n/a
28	ATF3	chr1:149684003-149684461	HCT-116	colon:	n/a	n/a
29	ATF3	chr1:149679933-149680415	A549	lung:	n/a	n/a
30	ATF3	chr1:149679965-149680393	A549	lung:	n/a	n/a
31	ATF3	chr1:149683987-149684447	K562	blood:	n/a	n/a
32	ATF3	chr1:149683962-149684559	A549	lung:	n/a	n/a
33	ATF3	chr1:149711658-149712146	A549	lung:	n/a	n/a
34	BACH1	chr1:149685097-149685104	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr1:149783062-149783253	K562	blood:	n/a	n/a
36	BATF	chr1:149784481-149784768	GM12878	blood:	n/a	n/a
37	BATF	chr1:149743595-149743947	GM12878	blood:	n/a	n/a
38	BATF	chr1:149683995-149684314	GM12878	blood:	n/a	n/a
39	BATF	chr1:149711785-149712234	GM12878	blood:	n/a	chr1:149711949-149711958
40	BATF	chr1:149736086-149736381	GM12878	blood:	n/a	n/a
41	BATF	chr1:149783100-149783925	GM12878	blood:	n/a	n/a
42	BATF	chr1:149764414-149764725	GM12878	blood:	n/a	n/a
43	BATF	chr1:149764009-149764293	GM12878	blood:	n/a	n/a
44	BATF	chr1:149784784-149785210	GM12878	blood:	n/a	n/a
45	BATF	chr1:149679795-149680410	GM12878	blood:	n/a	n/a
46	BATF	chr1:149678633-149679089	GM12878	blood:	n/a	chr1:149678898-149678909
47	BATF	chr1:149783127-149783478	GM12878	blood:	n/a	n/a
48	BATF	chr1:149743599-149744024	GM12878	blood:	n/a	n/a
49	BATF	chr1:149676700-149677043	GM12878	blood:	n/a	n/a
50	BATF	chr1:149643480-149643688	GM12878	blood:	n/a	n/a

(count:2808 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:149784776-149784826	HIPEpiC	eye:	n/a
2	chr1:149721664-149721714	HCT-116	colon:	n/a
3	chr1:149784776-149784826	HIPEpiC	eye:	n/a
4	chr1:149721664-149721714	HCT-116	colon:	n/a
5	chr1:149673328-149673378	K562	blood:	n/a
6	chr1:149670096-149670146	HCF	heart:	n/a
7	chr1:149679932-149679982	HCF	heart:	n/a
8	chr1:149784571-149784621	SK-N-MC	brain:	n/a
9	chr1:149718651-149718701	Hela-S3	cervix:	n/a
10	chr1:149719461-149719511	T-47D	breast:	n/a
11	chr1:149672849-149672899	AG09309	skin:	n/a
12	chr1:149784212-149784262	SKMC	muscle:	n/a
13	chr1:149784851-149784901	GM12891	blood:	n/a
14	chr1:149670096-149670146	GM12891	blood:	n/a
15	chr1:149717620-149717670	NHDF-neo	bronchial:	n/a
16	chr1:149764790-149764840	GM19239	blood:	n/a
17	chr1:149764680-149764730	HEK293	kidney:	embryo
18	chr1:149767909-149767959	HepG2	liver:	n/a
19	chr1:149673689-149673739	GM19239	blood:	n/a
20	chr1:149676378-149676428	NHDF-neo	bronchial:	n/a
21	chr1:149670096-149670146	A549	lung:	n/a
22	chr1:149719461-149719511	HRPEpiC	eye:	n/a
23	chr1:149720577-149720627	ovcar-3	ovarian:	n/a
24	chr1:149719536-149719586	CMK	blood:	n/a
25	chr1:149764342-149764392	SK-N-MC	brain:	n/a
26	chr1:149787666-149787716	BJ	skin:	n/a
27	chr1:149670057-149670107	SKMC	muscle:	n/a
28	chr1:149784851-149784901	BJ	skin:	n/a
29	chr1:149684561-149684611	GM12891	blood:	n/a
30	chr1:149679932-149679982	NB4	blood:	n/a
31	chr1:149783778-149783828	SKMC	muscle:	n/a
32	chr1:149719461-149719511	HNPCEpiC	eye:	n/a
33	chr1:149676378-149676428	RPTEC	kidney:	n/a
34	chr1:149784776-149784826	HCT-116	colon:	n/a
35	chr1:149764739-149764789	ovcar-3	ovarian:	n/a
36	chr1:149670096-149670146	HCM	heart:	n/a
37	chr1:149784851-149784901	ECC-1	luminal epithelium:	n/a
38	chr1:149717620-149717670	HPAEpiC	pulmonary alveolar:	n/a
39	chr1:149753023-149753073	GM19239	blood:	n/a
40	chr1:149718651-149718701	HL-60	blood:	n/a
41	chr1:149670557-149670607	BE2_C	brain:	n/a
42	chr1:149719243-149719293	IMR90	lung:	fetal
43	chr1:149719243-149719293	HCF	heart:	n/a
44	chr1:149765026-149765076	Hela-S3	cervix:	n/a
45	chr1:149764342-149764392	AG04449	skin:	fetal
46	chr1:149719461-149719511	MCF10A-Er-Src	breast:	n/a
47	chr1:149787666-149787716	RPTEC	kidney:	n/a
48	chr1:149672151-149672201	HRPEpiC	eye:	n/a
49	chr1:149684418-149684468	SK-N-SH	brain:	n/a
50	chr1:149764342-149764392	Caco-2	colon:	n/a

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:149782452..149784752-chr17:56707405..56709956,2	MCF-7	breast:
2	chr1:149780176..149782489-chr1:149856785..149858903,2	MCF-7	breast:
3	chr1:144532605..144534445-chr1:149782477..149783992,2	K562	blood:
4	chr1:149783798..149785644-chr1:149820070..149822937,2	MCF-7	breast:
5	chr1:149784782..149785302-chr18:33766792..33767490,2	Hela-S3	cervix:
6	chr1:149758293..149760951-chr1:149816252..149817928,2	K562	blood:
7	chr1:149783817..149784624-chr11:85780019..85780945,2	HCT-116	colon:
8	chr1:149790699..149793037-chr1:149857705..149860601,2	MCF-7	breast:
9	chr1:149298692..149300746-chr1:149683634..149686545,2	MCF-7	breast:
10	chr1:146554326..146556624-chr1:149762818..149765682,2	K562	blood:
11	chr1:149305186..149307455-chr1:149691743..149693791,2	MCF-7	breast:
12	chr1:149783767..149785464-chr8:128748243..128750155,2	MCF-7	breast:
13	chr1:149764705..149766626-chr1:149783077..149785466,2	MCF-7	breast:
14	chr1:144532726..144534859-chr1:149656717..149660251,3	K562	blood:
15	chr1:149272620..149273452-chr1:149658236..149658977,2	MCF-7	breast:
16	chr1:149783342..149785620-chr1:149887421..149889754,2	K562	blood:
17	chr1:149777219..149780233-chr1:149783761..149786780,3	K562	blood:
18	chr1:149783982..149786331-chr20:46129581..46131527,2	MCF-7	breast:
19	chr1:149304628..149306966-chr1:149690305..149693086,2	MCF-7	breast:
20	chr1:149780184..149786348-chr1:149813638..149819174,10	MCF-7	breast:
21	chr1:149780406..149781983-chr11:21191112..21193210,2	MCF-7	breast:
22	chr1:149780176..149786781-chr1:149856138..149862217,21	MCF-7	breast:
23	chr1:149783800..149785818-chr1:149904414..149906433,2	K562	blood:
24	chr1:149776274..149778448-chr1:149782482..149785276,2	MCF-7	breast:
25	chr1:149299280..149300172-chr1:149684615..149685511,3	MCF-7	breast:
26	chr1:144531697..144534436-chr1:149784086..149786783,2	K562	blood:
27	chr1:149782518..149784153-chr17:64298114..64300173,2	MCF-7	breast:
28	chr1:24306115..24306820-chr1:149785025..149785525,2	Hela-S3	cervix:

(count:65 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL358813.2-2	chr1:149672301-149672733	NR_046138
2	lnc-HIST2H2BF-1	chr1:149699922-149699958	ENSG00000234232.2
3	lnc-AL358813.2-2	chr1:149636684-149636735	NONHSAT006236
4	lnc-AL358813.2-2	chr1:149636144-149636247	ENSG00000232151.3
5	lnc-HIST2H2BF-1	chr1:149692947-149693081	ENSG00000234232
6	lnc-FCGR1A-1	chr1:149771333-149771795	NONHSAT006251
7	lnc-AL358813.2-2	chr1:149670209-149670452	NR_046138
8	lnc-AL358813.2-2	chr1:149676746-149676815	NONHSAT006223
9	lnc-HIST2H4A-2	chr1:149761924-149761961	NONHSAT006250
10	lnc-AL358813.2-2	chr1:149664468-149664503	NONHSAT006223
11	lnc-AL358813.2-2	chr1:149670209-149670452	NONHSAT006214
12	lnc-HIST2H3D-2	chr1:149783238-149783312	ENSG00000242663.1
13	lnc-HIST2H2BF-1	chr1:149691432-149691646	ENSG00000234232
14	lnc-HIST2H2BF-1	chr1:149694411-149694620	ENSG00000234232.2
15	lnc-AL358813.2-2	chr1:149632456-149632691	ENSG00000232151.3
16	lnc-AL358813.2-2	chr1:149632904-149633208	ENSG00000232151.3
17	lnc-HIST2H2BF-1	chr1:149692947-149693081	ENSG00000234232.2
18	lnc-AL358813.2-3	chr1:149664577-149664889	NONHSAT006240
19	lnc-AL358813.2-2	chr1:149672301-149672733	NONHSAT006214
20	lnc-HIST2H3D-1	chr1:149757215-149759694	ENSG00000233030.2
21	lnc-AL358813.2-2	chr1:149627007-149627107	NONHSAT006235
22	lnc-AL358813.2-2	chr1:149670206-149670452	NONHSAT006212
23	lnc-HIST2H3D-2	chr1:149754433-149754816	ENSG00000242663.1
24	lnc-HIST2H3D-1	chr1:149763514-149764576	ENSG00000233030.2
25	lnc-AL358813.2-2	chr1:149670209-149670452	NONHSAT006216
26	lnc-AL358813.2-2	chr1:149637498-149637707	NONHSAT006237
27	lnc-HIST2H4A-3	chr1:149754726-149755507	NONHSAT006247
28	lnc-AL358813.2-2	chr1:149636684-149636930	ENSG00000232151.3
29	lnc-AL358813.2-2	chr1:149672301-149672733	NONHSAT006213
30	lnc-AL358813.2-2	chr1:149671772-149671860	NONHSAT006213
31	lnc-AL358813.2-2	chr1:149632456-149632691	NONHSAT006236
32	lnc-AL358813.2-2	chr1:149632456-149632691	ENSG00000232151.3
33	lnc-FCGR1A-1	chr1:149769027-149769076	NONHSAT006251
34	lnc-HIST2H2BF-1	chr1:149694461-149694633	ENSG00000234232.2
35	lnc-AL358813.2-2	chr1:149640790-149640911	NONHSAT006236
36	lnc-AL358813.2-4	chr1:149689368-149689854	NONHSAT006243
37	lnc-AL358813.2-2	chr1:149672301-149672733	NONHSAT006211
38	lnc-AL358813.2-2	chr1:149646785-149649302	NONHSAT006239
39	lnc-AL358813.2-2	chr1:149636445-149636583	ENSG00000232151.3
40	lnc-HIST2H2BF-3	chr1:149718450-149720133	NONHSAT006245
41	lnc-AL358813.2-2	chr1:149671772-149671860	NONHSAT006211
42	lnc-HIST2H2BF-1	chr1:149698419-149698605	ENSG00000234232
43	lnc-AL358813.2-2	chr1:149627341-149627518	NONHSAT006237
44	lnc-HIST2H4A-3	chr1:149754284-149754330	NONHSAT006247
45	lnc-AL358813.2-2	chr1:149632904-149633021	NONHSAT006236
46	lnc-HIST2H2BF-1	chr1:149694456-149694633	ENSG00000234232.2
47	lnc-AL358813.2-2	chr1:149672301-149672733	NONHSAT006212
48	lnc-AL358813.2-2	chr1:149636684-149636735	NONHSAT006237
49	lnc-AL358813.2-2	chr1:149627007-149627107	ENSG00000232151.3
50	lnc-AL358813.2-2	chr1:149672301-149672983	NONHSAT006216

No data

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	HIST2H2BF	hsa-let-7e-5p	chr1:149754506-149754527
2	HIST2H2BF	hsa-let-7a-5p	chr1:149754506-149754527
3	HIST2H2BF	hsa-miR-98-5p	chr1:149754506-149754531
4	HIST2H2BF	hsa-miR-125b-5p	chr1:149754502-149754527

Variant related genes	Relation type
HIST2H2BF	TF binding region
ENSG00000234232	TF binding region
FCGR1A	TF binding region
ENSG00000239903	TF binding region
ENSG00000268554	TF binding region
ENSG00000197844	TF binding region
HIST2H3D	TF binding region
ENSG00000263825	TF binding region
ENSG00000237168	TF binding region
ENSG00000233030	TF binding region
FAM231D	TF binding region
HIST2H4A	TF binding region
RNU1-68P	TF binding region
ENSG00000242663	TF binding region
ENSG00000226500	TF binding region
ENSG00000223759	TF binding region
HIST2H2BF	CpG island
ENSG00000234232	CpG island
FCGR1A	CpG island
ENSG00000239903	CpG island
ENSG00000268554	CpG island
ENSG00000197844	CpG island
HIST2H3D	CpG island
ENSG00000263825	CpG island
ENSG00000237168	CpG island
ENSG00000233030	CpG island
FAM231D	CpG island
HIST2H4A	CpG island
RNU1-68P	CpG island
ENSG00000242663	CpG island
ENSG00000226500	CpG island
ENSG00000223759	CpG island
ENSG00000261716	chromatin interactions
ENSG00000183598	chromatin interactions
ENSG00000272993	chromatin interactions
ENSG00000203812	chromatin interactions
ENSG00000220323	chromatin interactions
ENSG00000260552	chromatin interactions
ENSG00000242663	chromatin interactions
ENSG00000159164	chromatin interactions
ENSG00000073921	chromatin interactions
ENSG00000014914	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000230832	chromatin interactions
ENSG00000075643	chromatin interactions
ENSG00000203814	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000254816	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000188529	chromatin interactions
ENSG00000136997	chromatin interactions
ENSG00000203819	chromatin interactions
ENSG00000154229	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000183558	chromatin interactions

Extended variants
information (count: 4666 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:4666 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200735668	chr1:149627412-149627413	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs2994207	chr1:149632941-149632942	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs7417365	chr1:149632943-149632944	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs200480065	chr1:149633079-149633080	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs200084613	chr1:149636745-149636746	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs192579691	chr1:149636815-149636816	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs55924598	chr1:149636836-149636837	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs587720204	chr1:149640866-149640867	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs201539455	chr1:149642656-149642657	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs61808228	chr1:149643486-149643487	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs587683761	chr1:149643511-149643512	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs61808229	chr1:149643547-149643548	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs587759752	chr1:149643585-149643586	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs587657065	chr1:149643602-149643603	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs200020316	chr1:149644141-149644142	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs201196041	chr1:149644273-149644274	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs607854	chr1:149644302-149644303	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs607807	chr1:149644345-149644346	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs587770050	chr1:149644353-149644354	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs587635011	chr1:149644364-149644365	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs113667727	chr1:149644386-149644387	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs200985388	chr1:149644937-149644938	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs2814279	chr1:149644967-149644968	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs587725763	chr1:149646710-149646711	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs587773676	chr1:149646717-149646718	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs587656044	chr1:149646759-149646760	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs587719138	chr1:149646764-149646765	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs587596044	chr1:149646770-149646771	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs587672566	chr1:149646778-149646779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs143251242	chr1:149646787-149646788	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs587717967	chr1:149646815-149646816	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs587601530	chr1:149646837-149646838	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs147527892	chr1:149646838-149646839	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs587677457	chr1:149646843-149646844	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs148591879	chr1:149646850-149646851	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs372357860	chr1:149646870-149646871	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs587732939	chr1:149646921-149646922	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs587636475	chr1:149646950-149646951	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs142747694	chr1:149646951-149646952	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs2787775	chr1:149646993-149646994	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs200115139	chr1:149647071-149647072	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs587661814	chr1:149647072-149647073	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs587747530	chr1:149647091-149647092	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs139714744	chr1:149647097-149647098	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs587614741	chr1:149647149-149647150	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs1756043	chr1:149647154-149647155	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs74996416	chr1:149647183-149647184	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs587771004	chr1:149647225-149647226	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs587645835	chr1:149647257-149647258	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs587702901	chr1:149647276-149647277	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
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
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
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
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Lung adenocarcinoma	21935476	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	23975201	CNVD

Chromatin state (count:1467 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149653800-149654200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr1:149654000-149654200	Enhancers	Primary T cells fromperipheralblood	blood
3	chr1:149654200-149657800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:149654200-149658200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:149655600-149655800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr1:149655600-149657000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:149655600-149658600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr1:149655800-149656000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:149655800-149656200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr1:149656000-149664000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:149656200-149658600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:149656600-149657400	Enhancers	Lung	lung
13	chr1:149656800-149658200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:149657400-149658800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:149657600-149658800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:149657800-149658800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr1:149658000-149658400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:149658200-149658600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr1:149658200-149658600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:149658200-149658600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:149658200-149658600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr1:149658200-149658600	Enhancers	K562	blood
23	chr1:149658200-149658800	Enhancers	Primary T cells from cord blood	blood
24	chr1:149658200-149658800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr1:149658600-149663800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr1:149658600-149664000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:149658600-149664000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:149658800-149664000	Weak transcription	Primary T cells from cord blood	blood
29	chr1:149658800-149664000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr1:149658800-149664000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr1:149663000-149663200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:149663000-149663400	Enhancers	Dnd41	blood
33	chr1:149663400-149663800	Weak transcription	Dnd41	blood
34	chr1:149663800-149665800	Enhancers	Fetal Thymus	thymus
35	chr1:149663800-149666400	Enhancers	Dnd41	blood
36	chr1:149663800-149668400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr1:149664000-149664200	Enhancers	Primary T cells from cord blood	blood
38	chr1:149664000-149664400	Enhancers	Fetal Muscle Leg	muscle
39	chr1:149664000-149664400	Active TSS	Gastric	stomach
40	chr1:149664000-149664600	Enhancers	Thymus	Thymus
41	chr1:149664000-149665200	Enhancers	Fetal Heart	heart
42	chr1:149664000-149665400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:149664000-149665400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:149664000-149665400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr1:149664000-149665400	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr1:149664000-149665600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr1:149664000-149666000	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr1:149664000-149666600	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr1:149664000-149668600	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr1:149664200-149664400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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