Variant report

Variant	esv3390617
Chromosome Location	chr15:56034285-56036833
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	chr15:56035308-56035658	HepG2	liver:	n/a	n/a
2	BACH1	chr15:56034376-56035496	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr15:56035153-56035731	A549	lung:	n/a	chr15:56035353-56035366 chr15:56035187-56035196 chr15:56035494-56035507 chr15:56035181-56035194 chr15:56035392-56035405 chr15:56035391-56035404 chr15:56035701-56035714 chr15:56035601-56035610 chr15:56035373-56035382 chr15:56035394-56035407
4	BHLHE40	chr15:56034446-56034746	HepG2	liver:	n/a	chr15:56034581-56034597
5	BHLHE40	chr15:56034537-56034723	GM12878	blood:	n/a	chr15:56034581-56034597
6	BRCA1	chr15:56035120-56035522	Hela-S3	cervix:	n/a	chr15:56035306-56035315
7	BRCA1	chr15:56034160-56034637	Hela-S3	cervix:	n/a	n/a
8	BRCA1	chr15:56035120-56035618	HepG2	liver:	n/a	chr15:56035306-56035315
9	BRCA1	chr15:56035121-56035493	H1-hESC	embryonic stem cell:	n/a	chr15:56035306-56035315
10	CEBPB	chr15:56034423-56035080	Hela-S3	cervix:	n/a	n/a
11	CEBPD	chr15:56035150-56035524	HepG2	liver:	n/a	n/a
12	CEBPD	chr15:56035099-56035738	HepG2	liver:	n/a	n/a
13	CHD2	chr15:56034462-56034688	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr15:56034289-56035750	Hela-S3	cervix:	n/a	n/a
15	CHD2	chr15:56035023-56035769	HepG2	liver:	n/a	n/a
16	CHD2	chr15:56034977-56035656	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr15:56035127-56035497	K562	blood:	n/a	n/a
18	CHD2	chr15:56034439-56034715	HepG2	liver:	n/a	n/a
19	CREB1	chr15:56034531-56035816	A549	lung:	n/a	n/a
20	CREB1	chr15:56034671-56035908	HepG2	liver:	n/a	n/a
21	CTBP2	chr15:56034424-56035676	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr15:56034860-56035010	GM12864	blood:	n/a	n/a
23	CTCF	chr15:56034539-56034633	LNCaP	prostate:	n/a	chr15:56034585-56034598
24	CTCF	chr15:56034967-56035087	GM19240	blood:	n/a	n/a
25	CTCF	chr15:56035386-56035410	MCF-7	breast:	n/a	n/a
26	CTCF	chr15:56034440-56034590	WERI-Rb-1	eye:	n/a	chr15:56034479-56034492
27	CTCF	chr15:56035540-56035690	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr15:56034980-56035130	GM12871	blood:	n/a	n/a
29	CTCF	chr15:56034900-56035050	AG09319	gingival:	n/a	n/a
30	CTCF	chr15:56035319-56035363	Pancreas_OC	pancreas:	n/a	chr15:56035334-56035347
31	CTCF	chr15:56034960-56035110	HRE	kidney:	n/a	n/a
32	CTCF	chr15:56034240-56034390	GM12871	blood:	n/a	n/a
33	CTCF	chr15:56034460-56034610	AoAF	blood vessel:	n/a	chr15:56034479-56034492 chr15:56034585-56034598
34	CTCF	chr15:56035000-56035150	AG04449	skin:	n/a	n/a
35	CTCF	chr15:56034500-56034650	HRE	kidney:	n/a	chr15:56034585-56034598
36	CTCF	chr15:56034880-56035030	GM06990	blood:	n/a	n/a
37	CTCF	chr15:56034923-56035086	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr15:56034420-56034570	HPAF	blood vessel:	n/a	chr15:56034479-56034492
39	CTCF	chr15:56034500-56034650	K562	blood:	n/a	chr15:56034585-56034598
40	CTCF	chr15:56034500-56034650	HA-sp	spinal cord:	n/a	chr15:56034585-56034598
41	CTCF	chr15:56034440-56034590	HFF-Myc	foreskin:	n/a	chr15:56034479-56034492
42	CTCF	chr15:56034574-56034607	Kidney_OC	kidney:	n/a	chr15:56034585-56034598
43	CTCF	chr15:56034490-56034683	MCF-7	breast:	n/a	chr15:56034585-56034598
44	CTCF	chr15:56034440-56034590	HCPEpiC	choroid plexus:	n/a	chr15:56034479-56034492
45	CTCF	chr15:56034927-56035086	MCF-7	breast:	n/a	n/a
46	CTCF	chr15:56034460-56034610	Caco-2	colon:	n/a	chr15:56034479-56034492 chr15:56034585-56034598
47	CTCF	chr15:56034540-56034690	GM06990	blood:	n/a	chr15:56034585-56034598
48	CTCF	chr15:56034920-56035070	HRE	kidney:	n/a	n/a
49	CTCF	chr15:56034473-56034596	GM10266	blood:	n/a	chr15:56034479-56034492
50	CTCF	chr15:56034760-56034910	GM12874	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:56035144-56035194	AG10803	skin:	n/a
2	chr15:56034801-56034851	SK-N-MC	brain:	n/a
3	chr15:56035144-56035194	AG10803	skin:	n/a
4	chr15:56034801-56034851	SK-N-MC	brain:	n/a
5	chr15:56035476-56035526	NH-A	brain:	n/a
6	chr15:56034245-56034295	LNCaP	prostate:	n/a
7	chr15:56034801-56034851	ProgFib	skin:	n/a
8	chr15:56034801-56034851	BJ	skin:	n/a
9	chr15:56036455-56036505	AG10803	skin:	n/a
10	chr15:56034245-56034295	HRE	kidney:	n/a
11	chr15:56034801-56034851	LNCaP	prostate:	n/a
12	chr15:56035454-56035504	HRPEpiC	eye:	n/a
13	chr15:56035144-56035194	Hela-S3	cervix:	n/a
14	chr15:56036455-56036505	AG09309	skin:	n/a
15	chr15:56035144-56035194	GM12892	blood:	n/a
16	chr15:56035476-56035526	PANC-1	pancreas:	n/a
17	chr15:56035371-56035421	Jurkat	blood:	n/a
18	chr15:56035454-56035504	HEK293	kidney:	embryo
19	chr15:56034245-56034295	ECC-1	luminal epithelium:	n/a
20	chr15:56034801-56034851	AoSMC	blood vessel:	n/a
21	chr15:56035616-56035666	GM19239	blood:	n/a
22	chr15:56035463-56035513	NT2-D1	testis:	n/a
23	chr15:56035144-56035194	SAEC	small airway:	n/a
24	chr15:56034817-56034867	H1-hESC	embryonic stem cell:	embryo
25	chr15:56034801-56034851	AG04449	skin:	fetal
26	chr15:56034245-56034295	SK-N-SH	brain:	n/a
27	chr15:56034245-56034295	GM19239	blood:	n/a
28	chr15:56035463-56035513	Jurkat	blood:	n/a
29	chr15:56035616-56035666	T-47D	breast:	n/a
30	chr15:56035459-56035509	H1-hESC	embryonic stem cell:	embryo
31	chr15:56035616-56035666	Caco-2	colon:	n/a
32	chr15:56036455-56036505	GM12891	blood:	n/a
33	chr15:56035463-56035513	U87	brain:	n/a
34	chr15:56034817-56034867	AG10803	skin:	n/a
35	chr15:56035616-56035666	IMR90	lung:	fetal
36	chr15:56035144-56035194	HL-60	blood:	n/a
37	chr15:56034245-56034295	H1-hESC	embryonic stem cell:	embryo
38	chr15:56035371-56035421	Hepatocyte	liver:	n/a
39	chr15:56035144-56035194	AG09309	skin:	n/a
40	chr15:56035616-56035666	SAEC	small airway:	n/a
41	chr15:56034245-56034295	ovcar-3	ovarian:	n/a
42	chr15:56034801-56034851	AG10803	skin:	n/a
43	chr15:56035476-56035526	K562	blood:	n/a
44	chr15:56036455-56036505	RPTEC	kidney:	n/a
45	chr15:56034801-56034851	PANC-1	pancreas:	n/a
46	chr15:56034245-56034295	HMEC	breast:	n/a
47	chr15:56034801-56034851	AG09319	gingival:	n/a
48	chr15:56035454-56035504	K562	blood:	n/a
49	chr15:56035616-56035666	HCM	heart:	n/a
50	chr15:56035459-56035509	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:55965960..55968011-chr15:56032220..56035162,2	MCF-7	breast:
2	chr15:56035905..56037422-chr15:56138325..56141165,2	MCF-7	breast:
3	chr15:56033073..56035225-chr17:56708615..56710685,2	MCF-7	breast:
4	chr15:56031905..56035384-chr15:56036677..56038977,3	MCF-7	breast:
5	chr1:109645681..109648514-chr15:56034152..56035869,2	MCF-7	breast:
6	chr15:56034248..56036795-chr15:56038057..56039658,2	MCF-7	breast:
7	chr15:56035867..56037850-chr15:56069521..56071241,2	MCF-7	breast:
8	chr15:56031905..56035384-chr15:56036677..56038977,3	MCF-7	breast:
9	chr15:56033858..56036761-chr15:56051440..56053715,2	MCF-7	breast:

Variant related genes	Relation type
PRTG	TF binding region
ENSG00000259369	TF binding region
PRTG	CpG island
ENSG00000259369	CpG island
ENSG00000259369	chromatin interactions
ENSG00000166450	chromatin interactions
ENSG00000251484	chromatin interactions
ENSG00000221218	chromatin interactions
ENSG00000212195	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568224435	chr15:56034288-56034289	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs538773828	chr15:56034303-56034304	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs73410256	chr15:56034531-56034532	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs557190012	chr15:56034554-56034555	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs375850909	chr15:56034564-56034565	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs376917650	chr15:56034580-56034581	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs577046641	chr15:56034588-56034589	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs370147522	chr15:56034595-56034596	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs552763963	chr15:56034601-56034602	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs566668151	chr15:56034620-56034621	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs572798399	chr15:56034621-56034622	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs538789414	chr15:56034624-56034625	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs541417900	chr15:56034633-56034634	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs562444193	chr15:56034651-56034652	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs575526792	chr15:56034671-56034672	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs544428594	chr15:56034679-56034680	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs369192972	chr15:56034680-56034681	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs564326126	chr15:56034732-56034733	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs533318802	chr15:56034740-56034741	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs547094928	chr15:56034754-56034755	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs560339994	chr15:56034790-56034791	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs529298043	chr15:56034808-56034809	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs372711183	chr15:56034817-56034818	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs549100168	chr15:56034818-56034819	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs568411307	chr15:56034852-56034853	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs115287614	chr15:56034870-56034871	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs11632579	chr15:56034878-56034879	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570681976	chr15:56034883-56034884	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs539593899	chr15:56034911-56034912	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs553039141	chr15:56034917-56034918	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs111250212	chr15:56034976-56034977	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs111698946	chr15:56034985-56034986	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs12910180	chr15:56035010-56035011	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575570244	chr15:56035027-56035028	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs368800317	chr15:56035030-56035031	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs35718474	chr15:56035093-56035094	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs564412875	chr15:56035102-56035103	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs577821746	chr15:56035108-56035109	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs540432954	chr15:56035122-56035123	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs560677865	chr15:56035150-56035151	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs116832744	chr15:56035239-56035240	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs114861116	chr15:56035241-56035242	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs189144879	chr15:56035248-56035249	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs62043907	chr15:56035257-56035258	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs574362416	chr15:56035267-56035268	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs538519448	chr15:56035310-56035311	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs11632762	chr15:56035321-56035322	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs533191751	chr15:56035340-56035341	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs546473046	chr15:56035358-56035359	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs537025794	chr15:56035366-56035367	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56030400-56034600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:56030600-56034600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:56031400-56036600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr15:56032600-56035400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:56032600-56036200	Active TSS	Fetal Kidney	kidney
6	chr15:56033000-56034800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:56033200-56034400	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
8	chr15:56033200-56034600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:56033200-56036000	Active TSS	Placenta Amnion	Placenta Amnion
10	chr15:56033400-56034400	Flanking Active TSS	Hela-S3	cervix
11	chr15:56033400-56034600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
12	chr15:56033400-56036200	Active TSS	Ovary	ovary
13	chr15:56033600-56034400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
14	chr15:56033600-56034400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
15	chr15:56033600-56034400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
16	chr15:56033600-56034400	Bivalent Enhancer	Liver	Liver
17	chr15:56033600-56034400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr15:56033600-56034400	Flanking Active TSS	HSMM	muscle
19	chr15:56033600-56034600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
20	chr15:56033600-56034600	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr15:56033600-56034600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr15:56033600-56034600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:56033600-56034600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
24	chr15:56033600-56034600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
25	chr15:56033600-56034600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:56033600-56034600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
27	chr15:56033600-56034600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
28	chr15:56033600-56034600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
29	chr15:56033600-56034600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr15:56033600-56034600	Flanking Active TSS	HUVEC	blood vessel
31	chr15:56033600-56034800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
32	chr15:56033600-56034800	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
33	chr15:56033600-56035000	Active TSS	Right Atrium	heart
34	chr15:56033600-56035600	Bivalent/Poised TSS	NHDF-Ad	bronchial
35	chr15:56033600-56035800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:56033600-56035800	Active TSS	Fetal Intestine Large	intestine
37	chr15:56033600-56035800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
38	chr15:56033600-56035800	Active TSS	Lung	lung
39	chr15:56033600-56036000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:56033600-56036000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
41	chr15:56033600-56036000	Active TSS	Aorta	Aorta
42	chr15:56033600-56036000	Active TSS	Right Ventricle	heart
43	chr15:56033600-56036200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
44	chr15:56033800-56034400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr15:56033800-56034400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr15:56033800-56034400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr15:56033800-56034400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
48	chr15:56033800-56034400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
49	chr15:56033800-56034400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:56033800-56034400	Bivalent Enhancer	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links