Variant report

Variant	esv3338350
Chromosome Location	chr12:117316869-117321167
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:423)
CpG islands
(count:1345)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr12:117318774-117319117	GM12878	blood:	n/a	n/a
2	CCNT2	chr12:117318736-117319509	K562	blood:	n/a	chr12:117319333-117319342 chr12:117319297-117319306
3	CEBPB	chr12:117316753-117316877	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr12:117319134-117319481	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr12:117316311-117316987	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr12:117318771-117319456	Hela-S3	cervix:	n/a	n/a
7	CHD1	chr12:117318512-117318933	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr12:117318747-117319521	Hela-S3	cervix:	n/a	chr12:117319435-117319445 chr12:117319298-117319308
9	CHD2	chr12:117318777-117319006	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr12:117316388-117316908	Hela-S3	cervix:	n/a	chr12:117316815-117316825
11	CREB1	chr12:117318718-117319134	A549	lung:	n/a	n/a
12	CTBP2	chr12:117319876-117320529	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTBP2	chr12:117317825-117318426	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTBP2	chr12:117318637-117319669	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTBP2	chr12:117316706-117317573	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr12:117320363-117321129	A549	lung:	n/a	n/a
17	CTCF	chr12:117320720-117320870	HRE	kidney:	n/a	n/a
18	CTCF	chr12:117320700-117320850	GM12872	blood:	n/a	n/a
19	CTCF	chr12:117318834-117319045	Spleen_OC	spleen:	n/a	n/a
20	CTCF	chr12:117320540-117320690	HCT-116	colon:	n/a	n/a
21	CTCF	chr12:117318860-117319010	GM12865	blood:	n/a	n/a
22	CTCF	chr12:117318820-117318970	HEK293	kidney:	n/a	n/a
23	CTCF	chr12:117320720-117320862	GM12892	blood:	n/a	n/a
24	CTCF	chr12:117320660-117320810	HCPEpiC	choroid plexus:	n/a	n/a
25	CTCF	chr12:117318963-117319049	GM20000	blood:	n/a	n/a
26	CTCF	chr12:117320680-117320830	AoAF	blood vessel:	n/a	n/a
27	CTCF	chr12:117318820-117319038	GM19239	blood:	n/a	n/a
28	CTCF	chr12:117320680-117320830	AG04450	lung:	n/a	n/a
29	CTCF	chr12:117320640-117320790	HPF	lung:	n/a	n/a
30	CTCF	chr12:117318840-117318990	BE2_C	brain:	n/a	n/a
31	CTCF	chr12:117320660-117320810	NB4	blood:	n/a	n/a
32	CTCF	chr12:117320720-117320870	HBMEC	blood vessel:	n/a	n/a
33	CTCF	chr12:117318862-117319045	K562	blood:	n/a	n/a
34	CTCF	chr12:117318689-117319121	T-47D	breast:	n/a	n/a
35	CTCF	chr12:117318880-117319030	GM12869	blood:	n/a	n/a
36	CTCF	chr12:117318860-117319010	GM12864	blood:	n/a	n/a
37	CTCF	chr12:117320700-117320850	RPTEC	kidney:	n/a	n/a
38	CTCF	chr12:117320636-117320856	A549	lung:	n/a	n/a
39	CTCF	chr12:117320656-117320848	K562	blood:	n/a	n/a
40	CTCF	chr12:117318742-117319092	T-47D	breast:	n/a	n/a
41	CTCF	chr12:117320720-117320870	GM12873	blood:	n/a	n/a
42	CTCF	chr12:117320680-117320830	WI-38	lung:	n/a	n/a
43	CTCF	chr12:117318580-117318730	A549	lung:	n/a	n/a
44	CTCF	chr12:117320270-117321093	HCT-116	colon:	n/a	n/a
45	CTCF	chr12:117318974-117318992	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr12:117320640-117320790	AG09309	skin:	n/a	n/a
47	CTCF	chr12:117320660-117320810	AoAF	blood vessel:	n/a	n/a
48	CTCF	chr12:117320620-117320770	HFF-Myc	foreskin:	n/a	n/a
49	CTCF	chr12:117320660-117320810	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr12:117318838-117319046	Pancreas_OC	pancreas:	n/a	n/a

(count:1345 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:117320299-117320349	GM19239	blood:	n/a
2	chr12:117318659-117318709	HPAEpiC	pulmonary alveolar:	n/a
3	chr12:117318251-117318301	HCF	heart:	n/a
4	chr12:117320299-117320349	GM19239	blood:	n/a
5	chr12:117318659-117318709	HPAEpiC	pulmonary alveolar:	n/a
6	chr12:117318251-117318301	HCF	heart:	n/a
7	chr12:117318548-117318598	Hepatocyte	liver:	n/a
8	chr12:117319856-117319906	H1-hESC	embryonic stem cell:	embryo
9	chr12:117318251-117318301	ovcar-3	ovarian:	n/a
10	chr12:117319785-117319835	SAEC	small airway:	n/a
11	chr12:117318832-117318882	GM12878	blood:	n/a
12	chr12:117318416-117318466	HCPEpiC	choroid plexus:	n/a
13	chr12:117319914-117319964	HL-60	blood:	n/a
14	chr12:117317515-117317565	GM12892	blood:	n/a
15	chr12:117320134-117320184	IMR90	lung:	fetal
16	chr12:117319395-117319445	GM12892	blood:	n/a
17	chr12:117319577-117319627	HCM	heart:	n/a
18	chr12:117319246-117319296	Jurkat	blood:	n/a
19	chr12:117316882-117316932	ovcar-3	ovarian:	n/a
20	chr12:117317770-117317820	AoSMC	blood vessel:	n/a
21	chr12:117320316-117320366	HIPEpiC	eye:	n/a
22	chr12:117319188-117319238	CMK	blood:	n/a
23	chr12:117319785-117319835	Caco-2	colon:	n/a
24	chr12:117317515-117317565	HMEC	breast:	n/a
25	chr12:117317770-117317820	SK-N-SH_RA	brain:	n/a
26	chr12:117319188-117319238	AG09309	skin:	n/a
27	chr12:117318416-117318466	Jurkat	blood:	n/a
28	chr12:117318548-117318598	GM12891	blood:	n/a
29	chr12:117319785-117319835	NHBE	bronchial:	n/a
30	chr12:117319785-117319835	NT2-D1	testis:	n/a
31	chr12:117319395-117319445	HEK293	kidney:	embryo
32	chr12:117319264-117319314	HUVEC	blood vessel:	n/a
33	chr12:117320003-117320053	AG09309	skin:	n/a
34	chr12:117319246-117319296	T-47D	breast:	n/a
35	chr12:117319264-117319314	HNPCEpiC	eye:	n/a
36	chr12:117320134-117320184	HMEC	breast:	n/a
37	chr12:117319188-117319238	HAEpiC	amniotic membrane:	n/a
38	chr12:117319246-117319296	ECC-1	luminal epithelium:	n/a
39	chr12:117318548-117318598	BJ	skin:	n/a
40	chr12:117319246-117319296	AoSMC	blood vessel:	n/a
41	chr12:117320134-117320184	NH-A	brain:	n/a
42	chr12:117318416-117318466	SK-N-MC	brain:	n/a
43	chr12:117319193-117319243	GM12892	blood:	n/a
44	chr12:117319785-117319835	GM12891	blood:	n/a
45	chr12:117319188-117319238	GM06990	blood:	n/a
46	chr12:117318548-117318598	HEEpiC	esophagus:	n/a
47	chr12:117319856-117319906	GM12892	blood:	n/a
48	chr12:117320003-117320053	Hepatocyte	liver:	n/a
49	chr12:117319914-117319964	GM19239	blood:	n/a
50	chr12:117320003-117320053	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:117317029..117319301-chr12:117346996..117349580,2	MCF-7	breast:
2	chr12:117314859..117317028-chr12:117347500..117350151,4	MCF-7	breast:
3	chr12:117174783..117176988-chr12:117316113..117318785,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HRK-1	chr12:117316878-117317422	NONHSAT030971

No data

Variant related genes	Relation type
HRK	TF binding region
HRK	CpG island
ENSG00000135119	chromatin interactions
ENSG00000111412	chromatin interactions
ENSG00000174989	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561562118	chr12:117316869-117316870	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs188205576	chr12:117316916-117316917	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs372986818	chr12:117316930-117316931	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs372204607	chr12:117316955-117316956	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
5	rs570024379	chr12:117316958-117316959	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
6	rs12227855	chr12:117316970-117316971	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs552175956	chr12:117317046-117317047	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
8	rs11068221	chr12:117317092-117317093	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs535155406	chr12:117317156-117317157	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs554759298	chr12:117317163-117317164	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs4767467	chr12:117317168-117317169	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
12	rs535375817	chr12:117317181-117317182	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
13	rs74931914	chr12:117317204-117317205	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
14	rs560391646	chr12:117317224-117317225	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
15	rs556351138	chr12:117317271-117317272	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
16	rs377686254	chr12:117317273-117317274	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
17	rs532343103	chr12:117317314-117317315	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
18	rs576417688	chr12:117317346-117317347	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
19	rs545294067	chr12:117317451-117317452	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs117261741	chr12:117317514-117317515	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs180994864	chr12:117317521-117317522	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs541160273	chr12:117317558-117317559	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs560817676	chr12:117317590-117317591	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs529755580	chr12:117317636-117317637	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs543671554	chr12:117317642-117317643	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs57654988	chr12:117317723-117317724	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs184774172	chr12:117317735-117317736	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs76030079	chr12:117317756-117317757	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs189560279	chr12:117317783-117317784	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs528475649	chr12:117317799-117317800	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs548519806	chr12:117317808-117317809	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs568467695	chr12:117317837-117317838	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs142917211	chr12:117317869-117317870	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs550024602	chr12:117317879-117317880	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs61184634	chr12:117317938-117317939	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs569847066	chr12:117317977-117317978	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs76440676	chr12:117318031-117318032	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs551937119	chr12:117318040-117318041	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs150789464	chr12:117318098-117318099	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs76841485	chr12:117318245-117318246	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs78254244	chr12:117318246-117318247	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs12311024	chr12:117318273-117318274	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs534326446	chr12:117318274-117318275	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs568739393	chr12:117318276-117318277	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs12311027	chr12:117318286-117318287	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs574469645	chr12:117318324-117318325	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs181457135	chr12:117318327-117318328	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs200442588	chr12:117318348-117318349	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs1495931	chr12:117318368-117318369	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577011161	chr12:117318374-117318375	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:648 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117316000-117317400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
2	chr12:117316000-117317800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr12:117316000-117320200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr12:117316200-117317000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
5	chr12:117316200-117317000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
6	chr12:117316200-117317000	Flanking Active TSS	Right Ventricle	heart
7	chr12:117316200-117317000	Bivalent Enhancer	Spleen	Spleen
8	chr12:117316200-117317400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:117316200-117317400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
10	chr12:117316200-117317400	Flanking Bivalent TSS/Enh	NHEK	skin
11	chr12:117316200-117317600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr12:117316200-117317800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr12:117316200-117318000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:117316200-117318400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:117316200-117318600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
16	chr12:117316200-117318800	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr12:117316200-117320000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr12:117316200-117320200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr12:117316200-117320400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
20	chr12:117316200-117320400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:117316400-117317000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:117316400-117317000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr12:117316400-117317000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr12:117316400-117317000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:117316400-117317000	Bivalent Enhancer	Fetal Heart	heart
26	chr12:117316400-117317000	Flanking Bivalent TSS/Enh	Placenta	Placenta
27	chr12:117316400-117317000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
28	chr12:117316400-117317000	Active TSS	Hela-S3	cervix
29	chr12:117316400-117317000	Bivalent/Poised TSS	HepG2	liver
30	chr12:117316400-117317200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:117316400-117317200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:117316400-117317200	Bivalent Enhancer	Fetal Lung	lung
33	chr12:117316400-117317400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:117316400-117317400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:117316400-117317400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
36	chr12:117316400-117317400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
37	chr12:117316400-117317400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
38	chr12:117316400-117317400	Bivalent/Poised TSS	Osteobl	bone
39	chr12:117316400-117317600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
40	chr12:117316400-117317600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:117316400-117317600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
42	chr12:117316400-117317800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:117316400-117317800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:117316400-117317800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:117316400-117317800	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr12:117316400-117317800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:117316400-117317800	Enhancers	Liver	Liver
48	chr12:117316400-117317800	Bivalent/Poised TSS	HSMM	muscle
49	chr12:117316400-117318400	Enhancers	Pancreas	Pancrea
50	chr12:117316400-117318600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung

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