Variant report

Variant	nsv482260
Chromosome Location	chr8:6949148-7106348
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr8:6949393-6949420	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr8:7085606-7085806	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr8:7105978-7106319	GM12878	blood:	n/a	n/a
4	BATF	chr8:7106013-7106321	GM12878	blood:	n/a	n/a
5	BATF	chr8:7065286-7065896	GM12878	blood:	n/a	chr8:7065585-7065596
6	BATF	chr8:6998432-6998646	GM12878	blood:	n/a	n/a
7	BATF	chr8:6976169-6976555	GM12878	blood:	n/a	n/a
8	BATF	chr8:7016048-7016290	GM12878	blood:	n/a	n/a
9	BATF	chr8:6976187-6976452	GM12878	blood:	n/a	n/a
10	BATF	chr8:7065329-7065744	GM12878	blood:	n/a	chr8:7065585-7065596
11	BCL11A	chr8:7078884-7079047	GM12878	blood:	n/a	n/a
12	BCL11A	chr8:7065268-7065674	GM12878	blood:	n/a	n/a
13	BCL11A	chr8:6963184-6963444	GM12878	blood:	n/a	n/a
14	BCL11A	chr8:6963128-6963505	GM12878	blood:	n/a	n/a
15	BCL11A	chr8:7065285-7065931	GM12878	blood:	n/a	n/a
16	BCL11A	chr8:7096016-7096195	GM12878	blood:	n/a	chr8:7096138-7096151
17	BCL11A	chr8:7059717-7059897	GM12878	blood:	n/a	n/a
18	BCL11A	chr8:6975956-6976114	GM12878	blood:	n/a	n/a
19	BHLHE40	chr8:7079428-7079694	HepG2	liver:	n/a	chr8:7079551-7079567
20	CBX3	chr8:7009532-7009840	K562	blood:	n/a	n/a
21	CEBPB	chr8:7003837-7004114	K562	blood:	n/a	n/a
22	CEBPB	chr8:6990758-6990880	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr8:7005819-7006426	K562	blood:	n/a	n/a
24	CEBPB	chr8:7005971-7006346	K562	blood:	n/a	n/a
25	CEBPB	chr8:7003781-7004139	K562	blood:	n/a	n/a
26	CEBPB	chr8:6990754-6990963	K562	blood:	n/a	n/a
27	CEBPB	chr8:6990652-6990853	K562	blood:	n/a	n/a
28	CEBPD	chr8:7005807-7006267	K562	blood:	n/a	n/a
29	CTCF	chr8:7085640-7085790	HRE	kidney:	n/a	chr8:7085759-7085777 chr8:7085754-7085775 chr8:7085761-7085774 chr8:7085761-7085774 chr8:7085760-7085776
30	CTCF	chr8:7079534-7079722	GM19240	blood:	n/a	chr8:7079617-7079630 chr8:7079616-7079632 chr8:7079615-7079633 chr8:7079610-7079631 chr8:7079617-7079630
31	CTCF	chr8:7079640-7079790	HAc	cerebellar:	n/a	n/a
32	CTCF	chr8:6949380-6949530	GM12864	blood:	n/a	chr8:6949447-6949468 chr8:6949445-6949463 chr8:6949448-6949461 chr8:6949448-6949461 chr8:6949446-6949462
33	CTCF	chr8:7004652-7004710	Lung_OC	lung:	n/a	n/a
34	CTCF	chr8:6966280-6966430	HCT-116	colon:	n/a	n/a
35	CTCF	chr8:7079640-7079790	GM12867	blood:	n/a	n/a
36	CTCF	chr8:6966280-6966430	RPTEC	kidney:	n/a	n/a
37	CTCF	chr8:6983720-6983870	MCF-7	breast:	n/a	n/a
38	CTCF	chr8:7079552-7079713	MCF-7	breast:	n/a	chr8:7079617-7079630 chr8:7079616-7079632 chr8:7079615-7079633 chr8:7079610-7079631 chr8:7079617-7079630
39	CTCF	chr8:6983649-6983868	H1-hESC	embryonic stem cell:	n/a	chr8:6983718-6983731
40	CTCF	chr8:7079562-7079712	MCF-7	breast:	n/a	chr8:7079617-7079630 chr8:7079616-7079632 chr8:7079615-7079633 chr8:7079610-7079631 chr8:7079617-7079630
41	CTCF	chr8:6949380-6949530	SAEC	small airway:	n/a	chr8:6949447-6949468 chr8:6949445-6949463 chr8:6949448-6949461 chr8:6949446-6949462 chr8:6949448-6949461
42	CTCF	chr8:7085670-7085897	GM19238	blood:	n/a	chr8:7085759-7085777 chr8:7085754-7085775 chr8:7085761-7085774 chr8:7085761-7085774 chr8:7085760-7085776
43	CTCF	chr8:7074620-7074770	GM12869	blood:	n/a	n/a
44	CTCF	chr8:7079334-7079802	A549	lung:	n/a	chr8:7079617-7079630 chr8:7079616-7079632 chr8:7079615-7079633 chr8:7079610-7079631 chr8:7079617-7079630
45	CTCF	chr8:6949242-6949618	IMR90	lung:	n/a	chr8:6949447-6949468 chr8:6949445-6949463 chr8:6949448-6949461 chr8:6949448-6949461 chr8:6949446-6949462
46	CTCF	chr8:7085644-7085895	GM12891	blood:	n/a	chr8:7085759-7085777 chr8:7085754-7085775 chr8:7085761-7085774 chr8:7085761-7085774 chr8:7085760-7085776
47	CTCF	chr8:7085677-7085888	Kidney_OC	kidney:	n/a	chr8:7085759-7085777 chr8:7085754-7085775 chr8:7085761-7085774 chr8:7085761-7085774 chr8:7085760-7085776
48	CTCF	chr8:7085617-7085791	HepG2	liver:	n/a	chr8:7085759-7085777 chr8:7085754-7085775 chr8:7085761-7085774 chr8:7085761-7085774 chr8:7085760-7085776
49	CTCF	chr8:7010780-7010930	MCF-7	breast:	n/a	n/a
50	CTCF	chr8:6949380-6949530	GM12878	blood:	n/a	chr8:6949447-6949468 chr8:6949445-6949463 chr8:6949448-6949461 chr8:6949448-6949461 chr8:6949446-6949462

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:6950160-6950210	IMR90	lung:	fetal
2	chr8:7085602-7085652	GM12892	blood:	n/a
3	chr8:6949415-6949465	HEEpiC	esophagus:	n/a
4	chr8:6949415-6949465	PANC-1	pancreas:	n/a
5	chr8:7005011-7005061	Caco-2	colon:	n/a
6	chr8:6950160-6950210	IMR90	lung:	fetal
7	chr8:7085602-7085652	GM12892	blood:	n/a
8	chr8:6949415-6949465	HEEpiC	esophagus:	n/a
9	chr8:6949415-6949465	PANC-1	pancreas:	n/a
10	chr8:7005011-7005061	Caco-2	colon:	n/a
11	chr8:7085602-7085652	HepG2	liver:	n/a
12	chr8:7079106-7079156	NHBE	bronchial:	n/a
13	chr8:6949321-6949371	AG09319	gingival:	n/a
14	chr8:6950160-6950210	LNCaP	prostate:	n/a
15	chr8:7085814-7085864	IMR90	lung:	fetal
16	chr8:6950038-6950088	K562	blood:	n/a
17	chr8:7004944-7004994	SAEC	small airway:	n/a
18	chr8:7005562-7005612	GM12891	blood:	n/a
19	chr8:7015931-7015981	HAEpiC	amniotic membrane:	n/a
20	chr8:7079761-7079811	HRCEpiC	kidney:	n/a
21	chr8:7078402-7078452	NHDF-neo	bronchial:	n/a
22	chr8:7015931-7015981	GM06990	blood:	n/a
23	chr8:7004738-7004788	HPAEpiC	pulmonary alveolar:	n/a
24	chr8:6950038-6950088	SK-N-MC	brain:	n/a
25	chr8:7079106-7079156	PANC-1	pancreas:	n/a
26	chr8:7079106-7079156	T-47D	breast:	n/a
27	chr8:7004944-7004994	HRE	kidney:	n/a
28	chr8:7079106-7079156	GM06990	blood:	n/a
29	chr8:7005011-7005061	SK-N-MC	brain:	n/a
30	chr8:7079106-7079156	PFSK-1	brain:	n/a
31	chr8:7004738-7004788	AG09319	gingival:	n/a
32	chr8:7083881-7083931	HAEpiC	amniotic membrane:	n/a
33	chr8:7005562-7005612	HUVEC	blood vessel:	n/a
34	chr8:7079106-7079156	SKMC	muscle:	n/a
35	chr8:7004819-7004869	HRE	kidney:	n/a
36	chr8:7005562-7005612	U87	brain:	n/a
37	chr8:7004819-7004869	HRPEpiC	eye:	n/a
38	chr8:7005678-7005728	HMEC	breast:	n/a
39	chr8:7079106-7079156	RPTEC	kidney:	n/a
40	chr8:7009699-7009749	PANC-1	pancreas:	n/a
41	chr8:7085602-7085652	Hela-S3	cervix:	n/a
42	chr8:7076476-7076526	HPAEpiC	pulmonary alveolar:	n/a
43	chr8:7005678-7005728	HIPEpiC	eye:	n/a
44	chr8:7004738-7004788	HUVEC	blood vessel:	n/a
45	chr8:7076476-7076526	ProgFib	skin:	n/a
46	chr8:7079761-7079811	AG09319	gingival:	n/a
47	chr8:7079106-7079156	CMK	blood:	n/a
48	chr8:6950160-6950210	SK-N-SH	brain:	n/a
49	chr8:6953040-6953090	GM12878	blood:	n/a
50	chr8:7079037-7079087	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:7079344..7079857-chr8:7537961..7538472,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEFA5-2	chr8:7001154-7001363	NONHSAT124813
2	lnc-DEFB105B-4	chr8:7010239-7010328	NONHSAT124814
3	lnc-DEFB105B-4	chr8:7043806-7044422	NONHSAT124814

Variant related genes	Relation type
ENSG00000234120	TF binding region
ENSG00000221567	TF binding region
ENSG00000230106	TF binding region
ENSG00000255025	TF binding region
RPS3AP33	TF binding region
ENSG00000254683	TF binding region
ENSG00000216206	TF binding region
ENSG00000231930	TF binding region
OR7E125P	TF binding region
RPS3AP30	TF binding region
ENSG00000234120	CpG island
ENSG00000221567	CpG island
ENSG00000230106	CpG island
ENSG00000255025	CpG island
RPS3AP33	CpG island
ENSG00000254683	CpG island
ENSG00000216206	CpG island
ENSG00000231930	CpG island
OR7E125P	CpG island
RPS3AP30	CpG island

Extended variants
information (count: 3894 )
Associated
traits (count: 146 )

Variant overlapped rSNPs/rCNVs (count:3894 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4588881	chr8:6949157-6949158	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548284704	chr8:6949159-6949160	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs568512140	chr8:6949165-6949166	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs554470584	chr8:6949175-6949176	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs185263613	chr8:6949176-6949177	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs371957416	chr8:6949186-6949187	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs574206219	chr8:6949192-6949193	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs374783012	chr8:6949207-6949208	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs554033023	chr8:6949239-6949240	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs577163337	chr8:6949242-6949243	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs539425936	chr8:6949245-6949246	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs556317322	chr8:6949254-6949255	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs576405990	chr8:6949258-6949259	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs4266674	chr8:6949259-6949260	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs562222895	chr8:6949274-6949275	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs370822465	chr8:6949297-6949298	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs374469079	chr8:6949319-6949320	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs540482417	chr8:6949336-6949337	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs368594094	chr8:6949341-6949342	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs532486379	chr8:6949350-6949351	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs576207407	chr8:6949357-6949358	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs552518543	chr8:6949366-6949367	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs372880313	chr8:6949381-6949382	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs531336885	chr8:6949407-6949408	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs547934848	chr8:6949409-6949410	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs28372392	chr8:6949413-6949414	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs4286969	chr8:6949423-6949424	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs547611847	chr8:6949424-6949425	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs570793335	chr8:6949425-6949426	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs539709898	chr8:6949437-6949438	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs371586122	chr8:6949439-6949440	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs556819821	chr8:6949441-6949442	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs541017850	chr8:6949454-6949455	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs376896963	chr8:6949485-6949486	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs555578653	chr8:6949493-6949494	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs560403887	chr8:6949496-6949497	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs540416595	chr8:6949497-6949498	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs13249359	chr8:6949503-6949504	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs577131389	chr8:6949508-6949509	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs545729241	chr8:6949516-6949517	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs562809566	chr8:6949519-6949520	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs549297350	chr8:6949521-6949522	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs199531768	chr8:6949522-6949523	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs562703911	chr8:6949534-6949535	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs561604537	chr8:6949548-6949549	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs527419265	chr8:6949551-6949552	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs547105975	chr8:6949564-6949565	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs570665719	chr8:6949565-6949566	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs533359167	chr8:6949569-6949570	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs550198502	chr8:6949572-6949573	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:146)

Disease	PMID	Source
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD
Incontinentia Pigmenti	22033527	CNVD
early-passage human iPS cells	21368824	CNVD
Chordoma	21215367	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	20369283	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6947600-6949200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:6947600-6949600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:6948000-6949400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:6948400-6949200	Weak transcription	Spleen	Spleen
5	chr8:6948400-6949200	Enhancers	Dnd41	blood
6	chr8:6949000-6949200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
7	chr8:6949000-6949200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
8	chr8:6949000-6949200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
9	chr8:6949000-6949400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:6949000-6949400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr8:6949000-6949400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:6949000-6949600	Enhancers	Primary B cells from peripheral blood	blood
13	chr8:6949200-6949400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr8:6949200-6949400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
15	chr8:6949200-6949400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr8:6949200-6949400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:6949200-6949400	Enhancers	Right Ventricle	heart
18	chr8:6949200-6949400	Flanking Active TSS	Dnd41	blood
19	chr8:6949200-6949600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:6949200-6949600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr8:6949200-6949600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:6949200-6949600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:6949200-6949600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr8:6949200-6949600	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr8:6949200-6949600	Bivalent Enhancer	Fetal Stomach	stomach
26	chr8:6949200-6949600	Enhancers	Pancreas	Pancrea
27	chr8:6949200-6950200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr8:6949200-6950200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
29	chr8:6949200-6950200	Enhancers	Fetal Brain Male	brain
30	chr8:6949200-6950200	Active TSS	Fetal Brain Female	brain
31	chr8:6949200-6950200	Enhancers	Spleen	Spleen
32	chr8:6949400-6949600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:6949400-6949600	Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr8:6949400-6949600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr8:6949400-6949600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr8:6949400-6949600	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:6949400-6949600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:6949400-6949600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:6949400-6949600	Enhancers	Esophagus	oesophagus
40	chr8:6949400-6949600	Enhancers	NH-A	brain
41	chr8:6949400-6949800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
42	chr8:6949400-6949800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:6949400-6949800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:6949400-6949800	Enhancers	Primary B cells from cord blood	blood
45	chr8:6949400-6949800	Active TSS	Primary T cells from cord blood	blood
46	chr8:6949400-6949800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr8:6949400-6949800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:6949400-6949800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:6949400-6949800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:6949400-6949800	Flanking Active TSS	Right Ventricle	heart

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