Variant report

Variant	esv3438791
Chromosome Location	chr15:40615285-40617833
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	ARID3A	chr15:40615676-40615744	K562	blood:	n/a	n/a
2	ATF1	chr15:40615491-40615833	K562	blood:	n/a	n/a
3	ATF2	chr15:40615526-40615909	GM12878	blood:	n/a	chr15:40615669-40615680
4	ATF2	chr15:40615328-40615836	H1-hESC	embryonic stem cell:	n/a	chr15:40615669-40615680
5	BACH1	chr15:40615508-40615804	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr15:40615405-40615906	K562	blood:	n/a	chr15:40615745-40615758 chr15:40615770-40615779 chr15:40615720-40615733 chr15:40615521-40615530 chr15:40615850-40615863
7	BCLAF1	chr15:40615545-40615899	GM12878	blood:	n/a	chr15:40615745-40615758 chr15:40615770-40615779 chr15:40615720-40615733 chr15:40615850-40615863
8	BHLHE40	chr15:40615528-40615909	GM12878	blood:	n/a	chr15:40615738-40615754 chr15:40615800-40615816
9	BHLHE40	chr15:40615581-40615850	K562	blood:	n/a	chr15:40615738-40615754 chr15:40615800-40615816
10	BRCA1	chr15:40615256-40615360	HepG2	liver:	n/a	n/a
11	BRCA1	chr15:40615577-40615901	H1-hESC	embryonic stem cell:	n/a	n/a
12	CBX3	chr15:40615328-40615902	K562	blood:	n/a	n/a
13	CBX3	chr15:40615427-40615824	K562	blood:	n/a	n/a
14	CCNT2	chr15:40615482-40616962	K562	blood:	n/a	chr15:40615823-40615832 chr15:40616915-40616924
15	CEBPB	chr15:40615685-40615837	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr15:40615441-40615746	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPD	chr15:40615544-40616005	HepG2	liver:	n/a	n/a
18	CHD1	chr15:40615529-40615829	GM12878	blood:	n/a	n/a
19	CHD1	chr15:40615494-40615826	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr15:40615430-40615891	H1-hESC	embryonic stem cell:	n/a	chr15:40615821-40615831 chr15:40615851-40615861 chr15:40615842-40615852
21	CHD2	chr15:40615535-40615889	Hela-S3	cervix:	n/a	chr15:40615821-40615831 chr15:40615851-40615861 chr15:40615842-40615852
22	CHD2	chr15:40615505-40615854	GM12878	blood:	n/a	chr15:40615821-40615831 chr15:40615842-40615852
23	CHD2	chr15:40615521-40615904	K562	blood:	n/a	chr15:40615821-40615831 chr15:40615851-40615861 chr15:40615842-40615852
24	CHD2	chr15:40615513-40615790	HepG2	liver:	n/a	n/a
25	CREB1	chr15:40615470-40615897	A549	lung:	n/a	chr15:40615668-40615681 chr15:40615668-40615681
26	CREB1	chr15:40615334-40616100	K562	blood:	n/a	chr15:40615668-40615681 chr15:40615668-40615681
27	CREB1	chr15:40615345-40616016	K562	blood:	n/a	chr15:40615668-40615681 chr15:40615668-40615681
28	CREB1	chr15:40615424-40615852	H1-hESC	embryonic stem cell:	n/a	chr15:40615668-40615681 chr15:40615668-40615681
29	CREB1	chr15:40615387-40615906	H1-hESC	embryonic stem cell:	n/a	chr15:40615668-40615681 chr15:40615668-40615681
30	CREB1	chr15:40615269-40616066	HepG2	liver:	n/a	chr15:40615668-40615681 chr15:40615668-40615681
31	CTBP2	chr15:40614278-40615958	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTBP2	chr15:40616226-40616999	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr15:40615600-40615750	NHLF	lung:	n/a	chr15:40615657-40615667 chr15:40615652-40615670 chr15:40615655-40615664
34	CTCF	chr15:40615560-40615710	HBMEC	blood vessel:	n/a	chr15:40615657-40615667 chr15:40615652-40615670 chr15:40615655-40615664
35	CTCF	chr15:40615557-40615706	MCF-7	breast:	n/a	chr15:40615657-40615667 chr15:40615652-40615670 chr15:40615655-40615664
36	CTCF	chr15:40615536-40615774	Kidney_OC	kidney:	n/a	chr15:40615657-40615667 chr15:40615652-40615670 chr15:40615655-40615664
37	CTCF	chr15:40615660-40615810	HCT-116	colon:	n/a	n/a
38	CTCF	chr15:40615560-40615710	AoAF	blood vessel:	n/a	chr15:40615657-40615667 chr15:40615652-40615670 chr15:40615655-40615664
39	CTCF	chr15:40615432-40615850	K562	blood:	n/a	chr15:40615657-40615667 chr15:40615826-40615836 chr15:40615652-40615670 chr15:40615655-40615664
40	CTCF	chr15:40615548-40615772	GM13977	blood:	n/a	chr15:40615657-40615667 chr15:40615652-40615670 chr15:40615655-40615664
41	CTCF	chr15:40615620-40615770	Hela-S3	cervix:	n/a	chr15:40615657-40615667 chr15:40615652-40615670 chr15:40615655-40615664
42	CTCF	chr15:40615580-40615730	GM12871	blood:	n/a	chr15:40615657-40615667 chr15:40615652-40615670 chr15:40615655-40615664
43	CTCF	chr15:40615491-40615774	SK-N-SH_RA	brain:	n/a	chr15:40615657-40615667 chr15:40615652-40615670 chr15:40615655-40615664
44	CTCF	chr15:40615680-40615830	RPTEC	kidney:	n/a	n/a
45	CTCF	chr15:40615560-40615710	NHEK	skin:	n/a	chr15:40615657-40615667 chr15:40615652-40615670 chr15:40615655-40615664
46	CTCF	chr15:40615462-40615812	K562	blood:	n/a	chr15:40615657-40615667 chr15:40615652-40615670 chr15:40615655-40615664
47	CTCF	chr15:40615560-40615710	Hela-S3	cervix:	n/a	chr15:40615657-40615667 chr15:40615652-40615670 chr15:40615655-40615664
48	CTCF	chr15:40615580-40615730	HPF	lung:	n/a	chr15:40615657-40615667 chr15:40615652-40615670 chr15:40615655-40615664
49	CTCF	chr15:40615481-40615484	GM12891	blood:	n/a	n/a
50	CTCF	chr15:40616420-40616570	GM12865	blood:	n/a	chr15:40616479-40616492 chr15:40616479-40616492

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:40615289-40615339	HRE	kidney:	n/a
2	chr15:40616741-40616791	AG10803	skin:	n/a
3	chr15:40615289-40615339	HRE	kidney:	n/a
4	chr15:40616741-40616791	AG10803	skin:	n/a
5	chr15:40616964-40617014	NHBE	bronchial:	n/a
6	chr15:40616030-40616080	HCT-116	colon:	n/a
7	chr15:40616174-40616224	Hela-S3	cervix:	n/a
8	chr15:40615783-40615833	PANC-1	pancreas:	n/a
9	chr15:40616174-40616224	HRE	kidney:	n/a
10	chr15:40616741-40616791	HCT-116	colon:	n/a
11	chr15:40616174-40616224	GM12891	blood:	n/a
12	chr15:40615783-40615833	T-47D	breast:	n/a
13	chr15:40616741-40616791	RPTEC	kidney:	n/a
14	chr15:40616030-40616080	HCPEpiC	choroid plexus:	n/a
15	chr15:40616964-40617014	AoSMC	blood vessel:	n/a
16	chr15:40616174-40616224	HRCEpiC	kidney:	n/a
17	chr15:40616741-40616791	ovcar-3	ovarian:	n/a
18	chr15:40615783-40615833	Hela-S3	cervix:	n/a
19	chr15:40616030-40616080	HMEC	breast:	n/a
20	chr15:40616964-40617014	GM12878	blood:	n/a
21	chr15:40615289-40615339	T-47D	breast:	n/a
22	chr15:40615289-40615339	HRPEpiC	eye:	n/a
23	chr15:40615289-40615339	PFSK-1	brain:	n/a
24	chr15:40616030-40616080	HIPEpiC	eye:	n/a
25	chr15:40616964-40617014	NHDF-neo	bronchial:	n/a
26	chr15:40616030-40616080	K562	blood:	n/a
27	chr15:40616964-40617014	H1-hESC	embryonic stem cell:	embryo
28	chr15:40616741-40616791	HMEC	breast:	n/a
29	chr15:40616741-40616791	BJ	skin:	n/a
30	chr15:40616741-40616791	BE2_C	brain:	n/a
31	chr15:40616030-40616080	RPTEC	kidney:	n/a
32	chr15:40616741-40616791	HEEpiC	esophagus:	n/a
33	chr15:40616174-40616224	HUVEC	blood vessel:	n/a
34	chr15:40616174-40616224	HEEpiC	esophagus:	n/a
35	chr15:40616030-40616080	SK-N-MC	brain:	n/a
36	chr15:40616964-40617014	GM19239	blood:	n/a
37	chr15:40615289-40615339	GM19239	blood:	n/a
38	chr15:40616741-40616791	HCM	heart:	n/a
39	chr15:40615783-40615833	HRPEpiC	eye:	n/a
40	chr15:40616174-40616224	CMK	blood:	n/a
41	chr15:40616964-40617014	IMR90	lung:	fetal
42	chr15:40615783-40615833	Caco-2	colon:	n/a
43	chr15:40616030-40616080	PANC-1	pancreas:	n/a
44	chr15:40616741-40616791	Jurkat	blood:	n/a
45	chr15:40616964-40617014	PFSK-1	brain:	n/a
46	chr15:40616741-40616791	HIPEpiC	eye:	n/a
47	chr15:40616174-40616224	HEK293	kidney:	embryo
48	chr15:40616174-40616224	PANC-1	pancreas:	n/a
49	chr15:40615783-40615833	H1-hESC	embryonic stem cell:	embryo
50	chr15:40616174-40616224	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40607352..40610567-chr15:40611377..40615529,4	MCF-7	breast:
2	chr15:40615118..40617051-chr15:40729542..40732021,2	K562	blood:
3	chr15:40613668..40617143-chr15:40761466..40764045,3	K562	blood:
4	chr15:40606578..40610704-chr15:40612489..40616999,9	K562	blood:
5	chr15:40616209..40618065-chr15:40641977..40644316,2	MCF-7	breast:
6	chr15:40599147..40601689-chr15:40614013..40619011,4	K562	blood:
7	chr15:40613571..40616194-chr15:40676591..40679577,2	K562	blood:
8	chr15:40616336..40620318-chr15:40620739..40624439,7	MCF-7	breast:
9	chr15:40615591..40616151-chr15:40630170..40630839,2	K562	blood:
10	chr15:40613324..40616013-chr15:40714259..40715828,2	K562	blood:
11	chr15:40606578..40609257-chr15:40612890..40617072,4	K562	blood:
12	chr15:40615161..40616254-chr15:40713827..40714847,4	K562	blood:
13	chr15:40596957..40600729-chr15:40613519..40617071,4	K562	blood:
14	chr15:40581922..40583593-chr15:40614518..40616173,2	K562	blood:
15	chr15:40614221..40619136-chr15:40629898..40635011,9	K562	blood:
16	chr15:40611920..40613859-chr15:40613927..40615590,2	K562	blood:
17	chr15:40510541..40512947-chr15:40613762..40616049,2	K562	blood:
18	chr15:40583616..40585723-chr15:40614548..40617090,2	K562	blood:
19	chr15:40573745..40575892-chr15:40613923..40616158,2	K562	blood:
20	chr15:40615499..40617257-chr15:40732436..40735160,2	K562	blood:
21	chr15:40608873..40611853-chr15:40613878..40616202,2	MCF-7	breast:
22	chr15:40573791..40575924-chr15:40613554..40617283,3	MCF-7	breast:
23	chr15:40615847..40616573-chr7:99686271..99687080,2	NB4	blood:
24	chr15:40613279..40619250-chr15:40625286..40632667,13	MCF-7	breast:
25	chr15:40614961..40616867-chr15:40712396..40714190,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHGR1-1	chr15:40616681-40618914	NONHSAT041825
2	lnc-PHGR1-1	chr15:40617417-40617689	ENSG00000259330.1
3	lnc-C15orf52-1	chr15:40615444-40615570	XLOC_011441
4	lnc-PHGR1-1	chr15:40617141-40618903	l_1150_chr15:40617140-40621361_brain
5	lnc-PHGR1-1	chr15:40616696-40617689	NONHSAT041826

Variant related genes	Relation type
LINC00984	TF binding region
LINC00984	CpG island
ENSG00000188549	chromatin interactions
ENSG00000137841	chromatin interactions
ENSG00000169105	chromatin interactions
ENSG00000252714	chromatin interactions
ENSG00000259288	chromatin interactions
ENSG00000233041	chromatin interactions
ENSG00000140320	chromatin interactions
ENSG00000230778	chromatin interactions
ENSG00000168090	chromatin interactions
IGF1R	miRNA target sites

Extended variants
information (count: 84 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74013054	chr15:40615285-40615286	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541817495	chr15:40615290-40615291	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs74401177	chr15:40615322-40615323	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs553135209	chr15:40615380-40615381	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs563876532	chr15:40615382-40615383	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs369744736	chr15:40615384-40615385	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs532747077	chr15:40615405-40615406	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs149811207	chr15:40615422-40615423	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs569558305	chr15:40615485-40615486	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
10	rs535692915	chr15:40615532-40615533	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
11	rs549026919	chr15:40615539-40615540	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
12	rs565831219	chr15:40615583-40615584	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs369947243	chr15:40615608-40615609	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs577736379	chr15:40615660-40615661	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs367567568	chr15:40615661-40615662	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs563986495	chr15:40615662-40615663	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs7171143	chr15:40615671-40615672	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs62017972	chr15:40615766-40615767	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs114985592	chr15:40615782-40615783	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs537431601	chr15:40615809-40615810	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs557282902	chr15:40615851-40615852	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs573956481	chr15:40615852-40615853	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs12907887	chr15:40615872-40615873	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs553406377	chr15:40615879-40615880	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs573088884	chr15:40615885-40615886	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs113701716	chr15:40615929-40615930	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs563837671	chr15:40615933-40615934	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs532906017	chr15:40615988-40615989	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs543152780	chr15:40616160-40616161	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs563265410	chr15:40616208-40616209	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs528894559	chr15:40616358-40616359	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs549241652	chr15:40616370-40616371	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs566008378	chr15:40616406-40616407	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs528292519	chr15:40616436-40616437	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs551640941	chr15:40616452-40616453	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs571475341	chr15:40616462-40616463	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs537506734	chr15:40616464-40616465	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs557196487	chr15:40616477-40616478	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs567618103	chr15:40616637-40616638	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs190639624	chr15:40616686-40616687	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
41	rs528615870	chr15:40616692-40616693	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
42	rs3743140	chr15:40616742-40616743	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs8036383	chr15:40616783-40616784	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs545189533	chr15:40616805-40616806	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
45	rs558677650	chr15:40616843-40616844	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
46	rs575453413	chr15:40616909-40616910	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
47	rs543467947	chr15:40616919-40616920	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
48	rs71472429	chr15:40616958-40616959	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
49	rs187190287	chr15:40616968-40616969	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
50	rs374489900	chr15:40616972-40616973	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	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
Colorectal cancer	16774939	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
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21129771	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:506 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40612400-40615600	Enhancers	Fetal Heart	heart
2	chr15:40613400-40617000	Enhancers	Fetal Brain Male	brain
3	chr15:40614200-40615400	Enhancers	HMEC	breast
4	chr15:40614200-40615600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:40614400-40615400	Enhancers	Spleen	Spleen
6	chr15:40614600-40615400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
7	chr15:40614600-40615400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
8	chr15:40614600-40615400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr15:40614600-40615400	Flanking Bivalent TSS/Enh	HepG2	liver
10	chr15:40614600-40615400	Enhancers	NHDF-Ad	bronchial
11	chr15:40614600-40615600	Enhancers	Lung	lung
12	chr15:40614600-40615600	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr15:40614600-40615600	Flanking Active TSS	NHEK	skin
14	chr15:40614800-40615400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
15	chr15:40614800-40615400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:40614800-40615400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
17	chr15:40614800-40615400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:40614800-40615400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr15:40614800-40615400	Enhancers	Liver	Liver
20	chr15:40614800-40615400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
21	chr15:40614800-40615400	Flanking Active TSS	Fetal Brain Female	brain
22	chr15:40614800-40615400	Enhancers	Ovary	ovary
23	chr15:40614800-40615400	Flanking Active TSS	NH-A	brain
24	chr15:40614800-40615600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:40614800-40615600	Enhancers	Stomach Mucosa	stomach
26	chr15:40614800-40616800	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr15:40614800-40617000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr15:40614800-40617200	Active TSS	Gastric	stomach
29	chr15:40614800-40618200	Active TSS	Colon Smooth Muscle	Colon
30	chr15:40614800-40618400	Active TSS	Aorta	Aorta
31	chr15:40615000-40615400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:40615000-40615400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr15:40615000-40615400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:40615000-40615400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr15:40615000-40615400	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr15:40615000-40615400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr15:40615000-40615600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr15:40615000-40615600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:40615000-40615600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:40615000-40615600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr15:40615000-40615600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr15:40615000-40615600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr15:40615000-40615600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr15:40615000-40615600	Flanking Active TSS	Colonic Mucosa	Colon
45	chr15:40615000-40615600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
46	chr15:40615000-40615600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr15:40615000-40615600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr15:40615000-40615600	Flanking Active TSS	Dnd41	blood
49	chr15:40615000-40615600	Flanking Active TSS	HSMM	muscle
50	chr15:40615000-40615600	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links