Variant report

Variant	nsv884520
Chromosome Location	chr6:31938291-31946614
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:733)
CpG islands
(count:4768)
Chromatin interactive
region (count:58)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:31939616-31941508	K562	blood:	n/a	n/a
2	ARID3A	chr6:31939573-31940327	HepG2	liver:	n/a	n/a
3	ATF1	chr6:31939413-31940522	K562	blood:	n/a	n/a
4	ATF1	chr6:31940767-31941148	K562	blood:	n/a	n/a
5	ATF2	chr6:31939321-31940541	GM12878	blood:	n/a	n/a
6	ATF2	chr6:31939259-31940382	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr6:31939229-31940477	GM12878	blood:	n/a	n/a
8	ATF2	chr6:31939208-31940603	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr6:31939462-31940470	K562	blood:	n/a	n/a
10	ATF3	chr6:31939622-31940284	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr6:31939627-31940263	HepG2	liver:	n/a	n/a
12	ATF3	chr6:31939589-31940640	K562	blood:	n/a	n/a
13	ATF3	chr6:31939463-31940395	HepG2	liver:	n/a	n/a
14	ATF3	chr6:31939853-31940249	GM12878	blood:	n/a	n/a
15	ATF3	chr6:31939551-31940439	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF3	chr6:31939705-31940292	K562	blood:	n/a	n/a
17	ATF3	chr6:31939551-31940281	GM12878	blood:	n/a	n/a
18	BACH1	chr6:31939651-31940141	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr6:31939777-31940373	K562	blood:	n/a	n/a
20	BATF	chr6:31939547-31940169	GM12878	blood:	n/a	n/a
21	BCL11A	chr6:31939595-31940143	GM12878	blood:	n/a	n/a
22	BCL3	chr6:31939480-31940423	GM12878	blood:	n/a	n/a
23	BCL3	chr6:31939645-31940422	A549	lung:	n/a	n/a
24	BCL3	chr6:31939334-31940430	A549	lung:	n/a	n/a
25	BCLAF1	chr6:31939374-31940426	GM12878	blood:	n/a	n/a
26	BCLAF1	chr6:31939562-31940720	K562	blood:	n/a	n/a
27	BCLAF1	chr6:31939647-31940491	K562	blood:	n/a	n/a
28	BCLAF1	chr6:31939450-31940606	GM12878	blood:	n/a	n/a
29	BHLHE40	chr6:31939587-31940343	GM12878	blood:	n/a	n/a
30	BHLHE40	chr6:31939553-31940542	HepG2	liver:	n/a	n/a
31	BHLHE40	chr6:31939453-31940630	K562	blood:	n/a	n/a
32	BRCA1	chr6:31939557-31940528	HepG2	liver:	n/a	n/a
33	BRCA1	chr6:31939593-31940646	H1-hESC	embryonic stem cell:	n/a	n/a
34	BRCA1	chr6:31939517-31940600	Hela-S3	cervix:	n/a	n/a
35	BRCA1	chr6:31939535-31940510	GM12878	blood:	n/a	n/a
36	CBX3	chr6:31939105-31941435	K562	blood:	n/a	n/a
37	CBX3	chr6:31939456-31940615	K562	blood:	n/a	n/a
38	CCNT2	chr6:31938793-31938816	K562	blood:	n/a	n/a
39	CCNT2	chr6:31939587-31940677	K562	blood:	n/a	n/a
40	CEBPB	chr6:31939550-31940241	A549	lung:	n/a	chr6:31939798-31939809
41	CEBPB	chr6:31939271-31940491	GM12878	blood:	n/a	chr6:31939798-31939809
42	CEBPB	chr6:31939525-31940237	IMR90	lung:	n/a	chr6:31939798-31939809
43	CEBPB	chr6:31939463-31940335	A549	lung:	n/a	chr6:31939798-31939809
44	CEBPB	chr6:31939399-31940531	K562	blood:	n/a	chr6:31939798-31939809
45	CEBPB	chr6:31940441-31940492	A549	lung:	n/a	n/a
46	CEBPB	chr6:31939484-31940305	MCF-7	breast:	n/a	chr6:31939798-31939809
47	CEBPB	chr6:31939576-31940330	H1-hESC	embryonic stem cell:	n/a	chr6:31939798-31939809
48	CEBPB	chr6:31939577-31939972	ECC-1	luminal epithelium:	n/a	chr6:31939798-31939809
49	CEBPB	chr6:31939605-31940440	HepG2	liver:	n/a	chr6:31939798-31939809
50	CEBPB	chr6:31939546-31940260	HepG2	liver:	n/a	chr6:31939798-31939809

(count:4768 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31939085-31939135	BE2_C	brain:	n/a
2	chr6:31944187-31944237	T-47D	breast:	n/a
3	chr6:31939797-31939847	HPAEpiC	pulmonary alveolar:	n/a
4	chr6:31939758-31939808	GM19239	blood:	n/a
5	chr6:31940406-31940456	Hela-S3	cervix:	n/a
6	chr6:31938891-31938941	AG09319	gingival:	n/a
7	chr6:31940010-31940060	GM12891	blood:	n/a
8	chr6:31941049-31941099	AG10803	skin:	n/a
9	chr6:31938358-31938408	SK-N-SH	brain:	n/a
10	chr6:31939840-31939890	HRPEpiC	eye:	n/a
11	chr6:31939085-31939135	BE2_C	brain:	n/a
12	chr6:31944187-31944237	T-47D	breast:	n/a
13	chr6:31939797-31939847	HPAEpiC	pulmonary alveolar:	n/a
14	chr6:31939758-31939808	GM19239	blood:	n/a
15	chr6:31940406-31940456	Hela-S3	cervix:	n/a
16	chr6:31938891-31938941	AG09319	gingival:	n/a
17	chr6:31940010-31940060	GM12891	blood:	n/a
18	chr6:31941049-31941099	AG10803	skin:	n/a
19	chr6:31938358-31938408	SK-N-SH	brain:	n/a
20	chr6:31939840-31939890	HRPEpiC	eye:	n/a
21	chr6:31940085-31940135	AG10803	skin:	n/a
22	chr6:31940459-31940509	GM12891	blood:	n/a
23	chr6:31938527-31938577	A549	lung:	n/a
24	chr6:31941049-31941099	Hepatocyte	liver:	n/a
25	chr6:31940041-31940091	MCF10A-Er-Src	breast:	n/a
26	chr6:31939816-31939866	GM19239	blood:	n/a
27	chr6:31939797-31939847	Jurkat	blood:	n/a
28	chr6:31943127-31943177	Hela-S3	cervix:	n/a
29	chr6:31940183-31940233	H1-hESC	embryonic stem cell:	embryo
30	chr6:31940782-31940832	A549	lung:	n/a
31	chr6:31938372-31938422	HepG2	liver:	n/a
32	chr6:31938744-31938794	CMK	blood:	n/a
33	chr6:31939865-31939915	RPTEC	kidney:	n/a
34	chr6:31940028-31940078	GM12892	blood:	n/a
35	chr6:31940461-31940511	NHDF-neo	bronchial:	n/a
36	chr6:31939106-31939156	HCPEpiC	choroid plexus:	n/a
37	chr6:31939865-31939915	GM06990	blood:	n/a
38	chr6:31939865-31939915	HEEpiC	esophagus:	n/a
39	chr6:31940522-31940572	ProgFib	skin:	n/a
40	chr6:31938984-31939034	H1-hESC	embryonic stem cell:	embryo
41	chr6:31939224-31939274	GM12891	blood:	n/a
42	chr6:31939280-31939330	AG09319	gingival:	n/a
43	chr6:31940606-31940656	HPAEpiC	pulmonary alveolar:	n/a
44	chr6:31938773-31938823	SK-N-MC	brain:	n/a
45	chr6:31944187-31944237	HL-60	blood:	n/a
46	chr6:31940217-31940267	ProgFib	skin:	n/a
47	chr6:31940243-31940293	NT2-D1	testis:	n/a
48	chr6:31940613-31940663	HCT-116	colon:	n/a
49	chr6:31940167-31940217	K562	blood:	n/a
50	chr6:31940085-31940135	HEK293	kidney:	embryo

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:31939382..31941038-chr6:32120778..32122360,2	K562	blood:
2	chr6:31705460..31708202-chr6:31937853..31939865,2	K562	blood:
3	chr6:31743176..31746587-chr6:31939802..31942689,4	K562	blood:
4	chr6:31864683..31867105-chr6:31939845..31941610,2	K562	blood:
5	chr6:31863236..31865768-chr6:31937517..31940391,2	K562	blood:
6	chr19:3970777..3971450-chr6:31940296..31940870,2	Hela-S3	cervix:
7	chr6:31942872..31944995-chr6:31945602..31947242,2	MCF-7	breast:
8	chr6:31507859..31509785-chr6:31940752..31943113,2	K562	blood:
9	chr2:32581485..32582238-chr6:31940376..31940968,2	Hela-S3	cervix:
10	chr6:31801345..31802956-chr6:31941361..31943630,2	K562	blood:
11	chr6:31863628..31867852-chr6:31937946..31941812,10	MCF-7	breast:
12	chr6:31900289..31902605-chr6:31938581..31941421,2	K562	blood:
13	chr6:31794009..31796794-chr6:31937769..31941181,3	K562	blood:
14	chr4:129730646..129731365-chr6:31939370..31940250,2	Hela-S3	cervix:
15	chr6:31830505..31832934-chr6:31940391..31942572,2	K562	blood:
16	chr6:31938465..31941001-chr6:32013795..32015947,2	K562	blood:
17	chr6:31697890..31700450-chr6:31939330..31941948,2	K562	blood:
18	chr6:31935647..31937211-chr6:31946410..31948036,2	K562	blood:
19	chr6:31619280..31620873-chr6:31935756..31938534,2	K562	blood:
20	chr12:92539371..92539895-chr6:31939185..31940090,2	Hela-S3	cervix:
21	chr6:31801458..31804077-chr6:31939275..31941249,3	MCF-7	breast:
22	chr6:31508285..31510798-chr6:31940056..31942252,2	K562	blood:
23	chr6:31628509..31634075-chr6:31935054..31938547,6	K562	blood:
24	chr6:31939757..31942101-chr6:31945170..31946681,2	MCF-7	breast:
25	chr6:31702916..31705480-chr6:31939951..31941559,2	MCF-7	breast:
26	chr6:31887719..31889549-chr6:31938108..31940067,2	MCF-7	breast:
27	chr6:31937366..31939733-chr6:32937181..32939543,3	K562	blood:
28	chr6:31942872..31944995-chr6:31945602..31947242,2	MCF-7	breast:
29	chr6:31939077..31941209-chr6:32144185..32146901,2	MCF-7	breast:
30	chr6:31830673..31832900-chr6:31938643..31940364,3	MCF-7	breast:
31	chr6:31865445..31866353-chr6:31940192..31940789,2	MCF-7	breast:
32	chr6:31632223..31634660-chr6:31938839..31941215,3	K562	blood:
33	chr6:31705740..31708202-chr6:31937563..31940759,3	K562	blood:
34	chr17:56708053..56710341-chr6:31937045..31938607,2	MCF-7	breast:
35	chr6:31830500..31832979-chr6:31939876..31941891,3	K562	blood:
36	chr6:31938987..31942159-chr6:31944563..31949146,6	MCF-7	breast:
37	chr6:31868623..31870778-chr6:31945874..31948322,2	K562	blood:
38	chr6:31938987..31942159-chr6:31944563..31949146,6	MCF-7	breast:
39	chr6:31802844..31805158-chr6:31938598..31941453,3	K562	blood:
40	chr6:31866210..31871385-chr6:31935988..31941288,8	K562	blood:
41	chr6:31763649..31765429-chr6:31938517..31942129,4	K562	blood:
42	chr6:31937794..31943427-chr6:31944150..31949640,18	K562	blood:
43	chr6:31912743..31916758-chr6:31944927..31949257,3	K562	blood:
44	chr6:31938785..31941869-chr6:32936192..32938386,3	MCF-7	breast:
45	chr6:31802366..31805115-chr6:31938170..31940148,2	K562	blood:
46	chr6:31867614..31871926-chr6:31937988..31942087,9	K562	blood:
47	chr6:31939699..31941257-chr6:32163726..32165365,2	K562	blood:
48	chr6:31758779..31760923-chr6:31939769..31942169,2	K562	blood:
49	chr6:31864068..31872693-chr6:31934470..31941847,12	MCF-7	breast:
50	chr6:31938655..31941642-chr6:32120425..32122384,2	K562	blood:

No data

Variant related genes	Relation type
DXO	TF binding region
STK19	TF binding region
C4A	TF binding region
DXO	CpG island
STK19	CpG island
C4A	CpG island
ENSG00000223837	chromatin interactions
ENSG00000263020	chromatin interactions
ENSG00000204444	chromatin interactions
ENSG00000166278	chromatin interactions
ENSG00000204388	chromatin interactions
ENSG00000204387	chromatin interactions
ENSG00000201823	chromatin interactions
ENSG00000255152	chromatin interactions
ENSG00000204389	chromatin interactions
ENSG00000258388	chromatin interactions
ENSG00000234006	chromatin interactions
ENSG00000204308	chromatin interactions
ENSG00000204301	chromatin interactions
ENSG00000204439	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000168477	chromatin interactions
ENSG00000201207	chromatin interactions
ENSG00000201754	chromatin interactions
ENSG00000204394	chromatin interactions
ENSG00000204351	chromatin interactions
ENSG00000204386	chromatin interactions
ENSG00000204385	chromatin interactions
ENSG00000115760	chromatin interactions
ENSG00000204344	chromatin interactions
ENSG00000213719	chromatin interactions
ENSG00000204390	chromatin interactions
ENSG00000167657	chromatin interactions
ENSG00000077684	chromatin interactions
ENSG00000204463	chromatin interactions
ENSG00000204314	chromatin interactions
ENSG00000204371	chromatin interactions
ENSG00000204469	chromatin interactions
ENSG00000204256	chromatin interactions
ENSG00000204366	chromatin interactions
ENSG00000265236	chromatin interactions
ENSG00000133639	chromatin interactions
ENSG00000111371	chromatin interactions
ENSG00000221988	chromatin interactions
ENSG00000204310	chromatin interactions
ENSG00000204257	chromatin interactions
ENSG00000204396	chromatin interactions
ENSG00000204348	chromatin interactions
ENSG00000243649	chromatin interactions
ENSG00000204438	chromatin interactions
ENSG00000204410	chromatin interactions
ENSG00000204435	chromatin interactions
ENSG00000213722	chromatin interactions
ENSG00000198563	chromatin interactions

Extended variants
information (count: 318 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17207860	chr6:31938291-31938292	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
2	rs367889283	chr6:31938294-31938295	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
3	rs541154345	chr6:31938324-31938325	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
4	rs559840208	chr6:31938328-31938329	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
5	rs373925733	chr6:31938363-31938364	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
6	rs574490845	chr6:31938372-31938373	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
7	rs141432695	chr6:31938382-31938383	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
8	rs146292178	chr6:31938399-31938400	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
9	rs139769566	chr6:31938402-31938403	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
10	rs192639720	chr6:31938403-31938404	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
11	rs144456656	chr6:31938410-31938411	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
12	rs17207867	chr6:31938412-31938413	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs376929172	chr6:31938414-31938415	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
14	rs139922264	chr6:31938427-31938428	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
15	rs35337578	chr6:31938451-31938452	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	25 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs564506595	chr6:31938453-31938454	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
17	rs200954579	chr6:31938515-31938516	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
18	rs567817660	chr6:31938527-31938528	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
19	rs199970782	chr6:31938581-31938582	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
20	rs144960609	chr6:31938589-31938590	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
21	rs535219642	chr6:31938630-31938631	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
22	rs41267114	chr6:31938631-31938632	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
23	rs416002	chr6:31938635-31938636	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	22 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs548171157	chr6:31938694-31938695	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
25	rs148629639	chr6:31938727-31938728	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
26	rs144228194	chr6:31938736-31938737	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
27	rs147759642	chr6:31938737-31938738	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
28	rs558849573	chr6:31938745-31938746	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
29	rs368534946	chr6:31938746-31938747	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
30	rs141450221	chr6:31938750-31938751	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
31	rs372621569	chr6:31938752-31938753	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
32	rs534867666	chr6:31938761-31938762	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
33	rs552896673	chr6:31938769-31938770	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
34	rs371028098	chr6:31938822-31938823	Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
35	rs200709463	chr6:31938841-31938842	Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
36	rs553784431	chr6:31938861-31938862	Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
37	rs147021025	chr6:31938869-31938870	Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
38	rs570266676	chr6:31938886-31938887	Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
39	rs374194980	chr6:31938887-31938888	Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
40	rs112259925	chr6:31938888-31938889	Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
41	rs574553922	chr6:31939050-31939051	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
42	rs541936724	chr6:31939059-31939060	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
43	rs202178198	chr6:31939073-31939074	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
44	rs201613063	chr6:31939115-31939116	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
45	rs371295094	chr6:31939123-31939124	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
46	rs375528246	chr6:31939140-31939141	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
47	rs575269411	chr6:31939147-31939148	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
48	rs369779413	chr6:31939169-31939170	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
49	rs371984557	chr6:31939188-31939189	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
50	rs201234020	chr6:31939189-31939190	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:135)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ovarian cancer	21781307	CNVD
Ependymoma	19289631	CNVD
Breast cancer	22844521	CNVD
Gestational infection	22844521	CNVD
HIV/AIDS	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Myelofibrosis	22110671	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Encephalopathy	20692195	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:861 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31927400-31938800	Weak transcription	Right Atrium	heart
2	chr6:31927600-31939400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:31927800-31938400	Strong transcription	Lung	lung
4	chr6:31927800-31938600	Strong transcription	NHEK	skin
5	chr6:31928000-31938400	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr6:31928000-31938400	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:31928000-31938400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:31928000-31938400	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr6:31928000-31938400	Strong transcription	Fetal Muscle Leg	muscle
10	chr6:31928000-31938600	Strong transcription	Rectal Smooth Muscle	rectum
11	chr6:31928000-31938600	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:31928000-31938800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:31928200-31938400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr6:31928200-31938400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr6:31928200-31938400	Strong transcription	Primary B cells from cord blood	blood
16	chr6:31928200-31938400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:31928200-31938400	Strong transcription	Fetal Intestine Large	intestine
18	chr6:31928200-31938400	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr6:31928400-31938400	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr6:31928400-31938400	Strong transcription	Primary T cells from cord blood	blood
21	chr6:31928400-31938400	Strong transcription	Esophagus	oesophagus
22	chr6:31928400-31938400	Strong transcription	Thymus	Thymus
23	chr6:31928800-31938400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr6:31928800-31938400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:31929000-31938400	Strong transcription	Left Ventricle	heart
26	chr6:31929000-31938600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:31934000-31938600	Weak transcription	Psoas Muscle	Psoas
28	chr6:31934400-31939200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:31935200-31938600	Weak transcription	Fetal Heart	heart
30	chr6:31935400-31938400	Strong transcription	A549	lung
31	chr6:31935800-31938400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr6:31936000-31938400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr6:31936000-31938600	Weak transcription	Stomach Mucosa	stomach
34	chr6:31936800-31938600	Transcr. at gene 5' and 3'	K562	blood
35	chr6:31936800-31938800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:31936800-31939200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:31937200-31938400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr6:31937200-31938600	Genic enhancers	Muscle Satellite Cultured Cells	--
39	chr6:31937200-31938800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:31937200-31939200	Genic enhancers	Spleen	Spleen
41	chr6:31937400-31938600	Genic enhancers	Brain Inferior Temporal Lobe	brain
42	chr6:31937400-31938800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:31937400-31939000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:31937400-31939200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:31937600-31938400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:31937600-31938400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr6:31937600-31938400	Genic enhancers	GM12878-XiMat	blood
48	chr6:31937600-31938400	Genic enhancers	HMEC	breast
49	chr6:31937600-31938400	Transcr. at gene 5' and 3'	Osteobl	bone
50	chr6:31937600-31938600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach

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