Variant report

Variant	nsv904430
Chromosome Location	chr15:78466127-78507316
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1006)
CpG islands
(count:183)
Chromatin interactive
region (count:62)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1006 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr15:78504877-78505333	K562	blood:	n/a	n/a
2	ATF3	chr15:78505004-78505266	K562	blood:	n/a	n/a
3	BHLHE40	chr15:78469889-78470061	K562	blood:	n/a	n/a
4	BHLHE40	chr15:78474298-78474571	K562	blood:	n/a	n/a
5	BHLHE40	chr15:78505007-78505240	K562	blood:	n/a	n/a
6	BHLHE40	chr15:78496301-78496412	K562	blood:	n/a	n/a
7	BHLHE40	chr15:78487889-78488348	K562	blood:	n/a	n/a
8	BRCA1	chr15:78504996-78505329	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr15:78470027-78470057	HepG2	liver:	n/a	n/a
10	CBX3	chr15:78504956-78505209	K562	blood:	n/a	n/a
11	CCNT2	chr15:78504923-78505383	K562	blood:	n/a	n/a
12	CCNT2	chr15:78469703-78470020	K562	blood:	n/a	n/a
13	CEBPB	chr15:78482767-78482777	A549	lung:	n/a	n/a
14	CEBPB	chr15:78505016-78505139	K562	blood:	n/a	n/a
15	CEBPB	chr15:78501510-78501881	A549	lung:	n/a	chr15:78501684-78501697
16	CEBPB	chr15:78504893-78505412	ECC-1	luminal epithelium:	n/a	n/a
17	CEBPB	chr15:78501426-78502065	ECC-1	luminal epithelium:	n/a	chr15:78501684-78501697
18	CEBPB	chr15:78490092-78490192	HepG2	liver:	n/a	chr15:78490119-78490132 chr15:78490107-78490118 chr15:78490119-78490130
19	CEBPB	chr15:78504784-78505622	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr15:78503956-78504016	IMR90	lung:	n/a	n/a
21	CEBPB	chr15:78501570-78501858	HepG2	liver:	n/a	chr15:78501684-78501697
22	CEBPB	chr15:78501524-78501881	Hela-S3	cervix:	n/a	chr15:78501684-78501697
23	CEBPB	chr15:78490137-78490174	K562	blood:	n/a	n/a
24	CEBPB	chr15:78501546-78501853	H1-hESC	embryonic stem cell:	n/a	chr15:78501684-78501697
25	CEBPB	chr15:78501483-78501928	ECC-1	luminal epithelium:	n/a	chr15:78501684-78501697
26	CEBPB	chr15:78501524-78501851	K562	blood:	n/a	chr15:78501684-78501697
27	CEBPB	chr15:78482671-78482795	HepG2	liver:	n/a	chr15:78482752-78482763
28	CEBPB	chr15:78502372-78502732	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr15:78506013-78506066	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr15:78504969-78505254	IMR90	lung:	n/a	n/a
31	CEBPB	chr15:78501453-78501939	MCF-7	breast:	n/a	chr15:78501684-78501697
32	CEBPB	chr15:78503840-78504166	K562	blood:	n/a	n/a
33	CEBPZ	chr15:78472322-78472424	HepG2	liver:	n/a	n/a
34	CHD1	chr15:78469860-78470003	GM12878	blood:	n/a	n/a
35	CHD2	chr15:78466909-78466922	GM12878	blood:	n/a	n/a
36	CHD2	chr15:78504923-78505348	Hela-S3	cervix:	n/a	n/a
37	CHD2	chr15:78469833-78470082	Hela-S3	cervix:	n/a	n/a
38	CHD2	chr15:78488068-78488196	HepG2	liver:	n/a	n/a
39	CREB1	chr15:78487989-78488374	A549	lung:	n/a	n/a
40	CTCF	chr15:78488380-78488530	WI-38	lung:	n/a	n/a
41	CTCF	chr15:78474341-78474585	K562	blood:	n/a	n/a
42	CTCF	chr15:78488120-78488270	GM12872	blood:	n/a	chr15:78488163-78488184 chr15:78488175-78488183 chr15:78488168-78488186 chr15:78488241-78488249 chr15:78488170-78488183
43	CTCF	chr15:78488100-78488250	GM12868	blood:	n/a	chr15:78488163-78488184 chr15:78488175-78488183 chr15:78488168-78488186 chr15:78488241-78488249 chr15:78488170-78488183
44	CTCF	chr15:78469800-78469950	GM12801	blood:	n/a	chr15:78469893-78469909
45	CTCF	chr15:78488520-78488670	GM12864	blood:	n/a	n/a
46	CTCF	chr15:78488340-78488490	A549	lung:	n/a	n/a
47	CTCF	chr15:78469678-78470025	A549	lung:	n/a	chr15:78469893-78469909
48	CTCF	chr15:78469780-78469930	AG04450	lung:	n/a	chr15:78469893-78469909
49	CTCF	chr15:78469803-78470013	SK-N-SH_RA	brain:	n/a	chr15:78469893-78469909
50	CTCF	chr15:78469758-78470072	GM19238	blood:	n/a	chr15:78469893-78469909

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:78499137-78499187	AG04449	skin:	fetal
2	chr15:78499137-78499187	GM12878	blood:	n/a
3	chr15:78499137-78499187	NHDF-neo	bronchial:	n/a
4	chr15:78485063-78485113	NHBE	bronchial:	n/a
5	chr15:78485063-78485113	H1-hESC	embryonic stem cell:	embryo
6	chr15:78505051-78505101	NH-A	brain:	n/a
7	chr15:78505051-78505101	Hepatocyte	liver:	n/a
8	chr15:78485063-78485113	HIPEpiC	eye:	n/a
9	chr15:78499137-78499187	HNPCEpiC	eye:	n/a
10	chr15:78505051-78505101	NHBE	bronchial:	n/a
11	chr15:78485063-78485113	MCF-7	breast:	n/a
12	chr15:78485063-78485113	ECC-1	luminal epithelium:	n/a
13	chr15:78505051-78505101	MCF-7	breast:	n/a
14	chr15:78499137-78499187	GM19239	blood:	n/a
15	chr15:78499137-78499187	CMK	blood:	n/a
16	chr15:78485063-78485113	SK-N-MC	brain:	n/a
17	chr15:78485063-78485113	IMR90	lung:	fetal
18	chr15:78485063-78485113	Hela-S3	cervix:	n/a
19	chr15:78505051-78505101	MCF10A-Er-Src	breast:	n/a
20	chr15:78485063-78485113	AG09309	skin:	n/a
21	chr15:78499137-78499187	GM12892	blood:	n/a
22	chr15:78499137-78499187	PrEC	prostate:	n/a
23	chr15:78485063-78485113	K562	blood:	n/a
24	chr15:78499137-78499187	SAEC	small airway:	n/a
25	chr15:78485063-78485113	HAEpiC	amniotic membrane:	n/a
26	chr15:78505051-78505101	ovcar-3	ovarian:	n/a
27	chr15:78485063-78485113	AG10803	skin:	n/a
28	chr15:78485063-78485113	HNPCEpiC	eye:	n/a
29	chr15:78505051-78505101	IMR90	lung:	fetal
30	chr15:78485063-78485113	RPTEC	kidney:	n/a
31	chr15:78499137-78499187	Jurkat	blood:	n/a
32	chr15:78505051-78505101	SKMC	muscle:	n/a
33	chr15:78499137-78499187	ovcar-3	ovarian:	n/a
34	chr15:78505051-78505101	AG04449	skin:	fetal
35	chr15:78485063-78485113	BJ	skin:	n/a
36	chr15:78499137-78499187	HMEC	breast:	n/a
37	chr15:78485063-78485113	U87	brain:	n/a
38	chr15:78499137-78499187	HL-60	blood:	n/a
39	chr15:78499137-78499187	SKMC	muscle:	n/a
40	chr15:78485063-78485113	PFSK-1	brain:	n/a
41	chr15:78499137-78499187	Hela-S3	cervix:	n/a
42	chr15:78505051-78505101	ECC-1	luminal epithelium:	n/a
43	chr15:78485063-78485113	LNCaP	prostate:	n/a
44	chr15:78499137-78499187	HPAEpiC	pulmonary alveolar:	n/a
45	chr15:78499137-78499187	T-47D	breast:	n/a
46	chr15:78505051-78505101	U87	brain:	n/a
47	chr15:78505051-78505101	AG09309	skin:	n/a
48	chr15:78499137-78499187	AoSMC	blood vessel:	n/a
49	chr15:78499137-78499187	PANC-1	pancreas:	n/a
50	chr15:78485063-78485113	HCPEpiC	choroid plexus:	n/a

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr15:78469276..78470413-chr15:78534209..78535133,3	K562	blood:
2	chr15:78423507..78424561-chr15:78487679..78488673,4	MCF-7	breast:
3	chr15:78485749..78489858-chr15:78490347..78494923,4	K562	blood:
4	chr15:78485130..78488548-chr15:78503873..78507158,3	K562	blood:
5	chr15:78495486..78497767-chr15:78498065..78500921,4	K562	blood:
6	chr15:78469416..78470435-chr15:78487676..78488595,5	MCF-7	breast:
7	chr15:78400766..78401305-chr15:78487699..78488656,2	MCF-7	breast:
8	chr15:78486394..78488846-chr15:78490457..78493452,2	MCF-7	breast:
9	chr15:78481450..78483781-chr15:78485362..78486951,2	MCF-7	breast:
10	chr15:78476353..78477880-chr15:78484861..78486597,2	MCF-7	breast:
11	chr15:78423265..78424151-chr15:78487704..78488462,4	MCF-7	breast:
12	chr15:78469806..78470336-chr15:78488083..78488997,2	K562	blood:
13	chr15:78460946..78462466-chr15:78493777..78496351,2	K562	blood:
14	chr15:78469437..78470386-chr15:78487695..78488601,3	MCF-7	breast:
15	chr15:78455141..78458694-chr15:78463989..78467554,5	MCF-7	breast:
16	chr15:78405675..78406204-chr15:78469550..78470386,3	MCF-7	breast:
17	chr15:78441601..78443214-chr15:78498877..78500521,2	K562	blood:
18	chr15:78368511..78371047-chr15:78502666..78504614,2	MCF-7	breast:
19	chr15:78469806..78470336-chr15:78488083..78488997,2	K562	blood:
20	chr15:78496325..78498387-chr15:78501053..78503232,2	MCF-7	breast:
21	chr15:78485749..78489858-chr15:78490347..78494923,4	K562	blood:
22	chr15:78504380..78505262-chr15:78533049..78533611,2	MCF-7	breast:
23	chr15:78425017..78427929-chr15:78494303..78496254,2	K562	blood:
24	chr15:78423867..78424387-chr15:78469439..78470095,2	MCF-7	breast:
25	chr15:78496538..78499859-chr15:78500154..78502705,3	MCF-7	breast:
26	chr15:78421965..78424193-chr15:78465887..78467751,2	K562	blood:
27	chr15:78439357..78441668-chr15:78468189..78471129,2	MCF-7	breast:
28	chr15:78425346..78429501-chr15:78464309..78466788,4	MCF-7	breast:
29	chr15:78405277..78406290-chr15:78487151..78488696,13	MCF-7	breast:
30	chr15:78422286..78423965-chr15:78477284..78479128,2	K562	blood:
31	chr15:78486921..78488907-chr15:78498120..78500810,2	MCF-7	breast:
32	chr15:78469399..78470392-chr15:78532758..78533807,5	K562	blood:
33	chr15:78496538..78499859-chr15:78500154..78502705,3	MCF-7	breast:
34	chr15:78465044..78467906-chr15:78468275..78471070,3	K562	blood:
35	chr15:78404966..78407239-chr15:78487303..78489850,2	MCF-7	breast:
36	chr15:78487022..78489077-chr15:78494616..78496936,2	MCF-7	breast:
37	chr15:78503669..78505180-chr5:127074238..127077145,2	MCF-7	breast:
38	chr15:78487022..78489077-chr15:78494616..78496936,2	MCF-7	breast:
39	chr15:78447133..78448969-chr15:78464297..78466316,2	K562	blood:
40	chr15:78469404..78471342-chr15:78532874..78534838,21	MCF-7	breast:
41	chr15:78405195..78406276-chr15:78487287..78488630,12	K562	blood:
42	chr15:78496325..78498387-chr15:78501053..78503232,2	MCF-7	breast:
43	chr15:78469416..78470435-chr15:78487676..78488595,5	MCF-7	breast:
44	chr15:78469629..78471471-chr15:78557003..78559345,2	MCF-7	breast:
45	chr15:78506069..78508704-chr15:78511024..78513521,2	K562	blood:
46	chr15:78465805..78468127-chr15:78469824..78472074,2	K562	blood:
47	chr15:78405636..78406154-chr15:78488208..78488731,2	MCF-7	breast:
48	chr15:78475825..78478458-chr15:78483182..78485648,2	MCF-7	breast:
49	chr15:78469437..78470386-chr15:78487695..78488601,3	MCF-7	breast:
50	chr15:78422295..78424853-chr15:78483303..78485010,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACSBG1-3	chr15:78483256-78483380	l_1196_chr15:78424251-78427184_brain
2	lnc-ACSBG1-3	chr15:78483106-78483244	l_1196_chr15:78424251-78427184_brain
3	lnc-ACSBG1-3	chr15:78482899-78482982	l_1196_chr15:78424251-78427184_brain
4	lnc-WDR61-1	chr15:78505865-78506209	NONHSAT047548

No data

Variant related genes	Relation type
ACSBG1	TF binding region
ACSBG1	CpG island
ENSG00000167202	chromatin interactions
ENSG00000103740	chromatin interactions
ENSG00000183476	chromatin interactions
ENSG00000230561	chromatin interactions
ENSG00000166411	chromatin interactions
ENSG00000271133	chromatin interactions
ENSG00000105855	chromatin interactions
ENSG00000140403	chromatin interactions
ENSG00000136425	chromatin interactions
ENSG00000260988	chromatin interactions

Extended variants
information (count: 1657 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1657 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2304824	chr15:78466127-78466128	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574260113	chr15:78466168-78466169	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs144333639	chr15:78466170-78466171	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs28440136	chr15:78466177-78466178	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs143573246	chr15:78466197-78466198	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs554178061	chr15:78466219-78466220	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs11072736	chr15:78466236-78466237	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs191007593	chr15:78466261-78466262	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs182300086	chr15:78466265-78466266	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs545080662	chr15:78466282-78466283	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs560237558	chr15:78466298-78466299	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs28625960	chr15:78466305-78466306	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs148033790	chr15:78466341-78466342	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs143763298	chr15:78466344-78466345	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs147214991	chr15:78466451-78466452	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs549922425	chr15:78466471-78466472	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs560479900	chr15:78466499-78466500	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs140574408	chr15:78466501-78466502	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs542941697	chr15:78466565-78466566	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs11631653	chr15:78466597-78466598	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs368443193	chr15:78466681-78466682	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs375058714	chr15:78466691-78466692	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs143858337	chr15:78466713-78466714	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs368704423	chr15:78466718-78466719	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs559124417	chr15:78466723-78466724	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs201965765	chr15:78466744-78466745	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs372660852	chr15:78466749-78466750	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs554607936	chr15:78466780-78466781	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs17850483	chr15:78466781-78466782	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs200213996	chr15:78466794-78466795	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs56261596	chr15:78466805-78466806	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs538171038	chr15:78466810-78466811	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs375037443	chr15:78466811-78466812	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs556850320	chr15:78466820-78466821	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs201403800	chr15:78466835-78466836	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs186673520	chr15:78466876-78466877	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs367742037	chr15:78466891-78466892	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs372982505	chr15:78466903-78466904	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs139784767	chr15:78466916-78466917	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs62009343	chr15:78466919-78466920	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs542567603	chr15:78466966-78466967	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs561150943	chr15:78466974-78466975	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs531602757	chr15:78466986-78466987	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs192564169	chr15:78467001-78467002	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs565212606	chr15:78467089-78467090	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs375958754	chr15:78467090-78467091	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs532344531	chr15:78467103-78467104	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs116496629	chr15:78467175-78467176	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs565731343	chr15:78467258-78467259	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs529834125	chr15:78467332-78467333	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:675 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78447000-78475200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:78448800-78466600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:78449000-78467800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr15:78450000-78466200	Strong transcription	Left Ventricle	heart
5	chr15:78451000-78466200	Strong transcription	Duodenum Smooth Muscle	Duodenum
6	chr15:78451200-78467000	Strong transcription	Stomach Smooth Muscle	stomach
7	chr15:78451200-78467600	Strong transcription	Brain Cingulate Gyrus	brain
8	chr15:78451400-78467200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:78452200-78467400	Strong transcription	Brain Angular Gyrus	brain
10	chr15:78452200-78467400	Strong transcription	Brain Inferior Temporal Lobe	brain
11	chr15:78453600-78467400	Strong transcription	Fetal Brain Female	brain
12	chr15:78454600-78467400	Strong transcription	Brain Substantia Nigra	brain
13	chr15:78456600-78466200	Weak transcription	HUVEC	blood vessel
14	chr15:78457000-78466800	Strong transcription	Rectal Smooth Muscle	rectum
15	chr15:78457000-78468400	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr15:78458200-78466600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:78458800-78468800	Weak transcription	Stomach Mucosa	stomach
18	chr15:78459000-78470000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:78460200-78466400	Weak transcription	Fetal Brain Male	brain
20	chr15:78460200-78474200	Weak transcription	HepG2	liver
21	chr15:78460400-78467000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr15:78461000-78466600	Strong transcription	Pancreas	Pancrea
23	chr15:78461800-78467000	Strong transcription	Aorta	Aorta
24	chr15:78461800-78471000	Weak transcription	Psoas Muscle	Psoas
25	chr15:78462000-78467200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:78462000-78468000	Strong transcription	Gastric	stomach
27	chr15:78463000-78468200	Enhancers	Primary B cells from peripheral blood	blood
28	chr15:78463400-78466400	Strong transcription	A549	lung
29	chr15:78463400-78466800	Strong transcription	Brain Anterior Caudate	brain
30	chr15:78463400-78467600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr15:78463800-78466200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr15:78464200-78466200	Weak transcription	NHLF	lung
33	chr15:78464200-78466800	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr15:78464200-78467000	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr15:78464200-78467200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr15:78464600-78466200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr15:78464600-78466200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr15:78464600-78466200	Weak transcription	Colon Smooth Muscle	Colon
39	chr15:78464600-78466400	Weak transcription	Small Intestine	intestine
40	chr15:78464600-78466800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:78464600-78467200	Strong transcription	Fetal Stomach	stomach
42	chr15:78464600-78467400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr15:78464600-78468000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr15:78464600-78469800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr15:78464800-78466400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr15:78464800-78466400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr15:78464800-78466400	Strong transcription	Adipose Nuclei	Adipose
48	chr15:78464800-78466400	Weak transcription	Ovary	ovary
49	chr15:78464800-78466600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr15:78464800-78466800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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