Variant report

Variant	esv3343760
Chromosome Location	chr15:41165085-41167633
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	chr15:41166533-41166716	K562	blood:	n/a	n/a
2	BACH1	chr15:41166394-41166513	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCLAF1	chr15:41165758-41166198	GM12878	blood:	n/a	chr15:41166088-41166101
4	BHLHE40	chr15:41165259-41165371	GM12878	blood:	n/a	n/a
5	BHLHE40	chr15:41165907-41166715	GM12878	blood:	n/a	n/a
6	BHLHE40	chr15:41165956-41166566	K562	blood:	n/a	n/a
7	BRCA1	chr15:41166431-41166796	Hela-S3	cervix:	n/a	n/a
8	BRCA1	chr15:41165758-41166043	Hela-S3	cervix:	n/a	n/a
9	CBX3	chr15:41165826-41166281	K562	blood:	n/a	n/a
10	CCNT2	chr15:41165851-41166614	K562	blood:	n/a	chr15:41165945-41165954
11	CEBPB	chr15:41165791-41166132	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr15:41166377-41166699	Hela-S3	cervix:	n/a	n/a
13	CHD1	chr15:41163921-41165479	GM12878	blood:	n/a	n/a
14	CHD1	chr15:41165781-41167048	GM12878	blood:	n/a	chr15:41165951-41165961 chr15:41165946-41165956
15	CHD2	chr15:41165022-41165505	GM12878	blood:	n/a	n/a
16	CHD2	chr15:41165727-41166691	GM12878	blood:	n/a	chr15:41165951-41165961 chr15:41165946-41165956
17	CHD2	chr15:41165755-41166073	H1-hESC	embryonic stem cell:	n/a	chr15:41165951-41165961 chr15:41165946-41165956
18	CHD2	chr15:41165784-41166726	Hela-S3	cervix:	n/a	chr15:41165951-41165961 chr15:41165946-41165956
19	CHD2	chr15:41166544-41166706	K562	blood:	n/a	n/a
20	CREB1	chr15:41165737-41166441	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTBP2	chr15:41165387-41166671	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr15:41165920-41166070	HRPEpiC	eye:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
23	CTCF	chr15:41165895-41166129	A549	lung:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
24	CTCF	chr15:41165925-41166024	HUVEC	blood vessel:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
25	CTCF	chr15:41165940-41166090	HRE	kidney:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
26	CTCF	chr15:41165821-41166108	H1-hESC	embryonic stem cell:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
27	CTCF	chr15:41165853-41166145	GM19240	blood:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
28	CTCF	chr15:41165920-41166070	HCT-116	colon:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
29	CTCF	chr15:41165740-41165890	GM12865	blood:	n/a	n/a
30	CTCF	chr15:41165920-41166070	SK-N-SH_RA	brain:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
31	CTCF	chr15:41166400-41166550	GM12870	blood:	n/a	n/a
32	CTCF	chr15:41165940-41166090	WI-38	lung:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
33	CTCF	chr15:41165880-41166030	HFF-Myc	foreskin:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
34	CTCF	chr15:41165823-41166148	MCF-7	breast:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
35	CTCF	chr15:41165855-41166149	K562	blood:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
36	CTCF	chr15:41165820-41166276	MCF-7	breast:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
37	CTCF	chr15:41165940-41166090	GM12865	blood:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
38	CTCF	chr15:41165744-41166261	K562	blood:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
39	CTCF	chr15:41165900-41166050	RPTEC	kidney:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
40	CTCF	chr15:41165874-41166129	GM13977	blood:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
41	CTCF	chr15:41165980-41166130	BJ	skin:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
42	CTCF	chr15:41165871-41166236	NHEK	skin:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
43	CTCF	chr15:41165760-41165910	A549	lung:	n/a	n/a
44	CTCF	chr15:41165897-41166110	Medullo	brain:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
45	CTCF	chr15:41165940-41166090	K562	blood:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
46	CTCF	chr15:41165920-41166070	HCM	heart:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
47	CTCF	chr15:41165860-41166162	A549	lung:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
48	CTCF	chr15:41165900-41166050	GM12867	blood:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
49	CTCF	chr15:41165920-41166070	HBMEC	blood vessel:	n/a	chr15:41165997-41166010 chr15:41165995-41166013
50	CTCF	chr15:41165920-41166070	AG04450	lung:	n/a	chr15:41165997-41166010 chr15:41165995-41166013

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:41166443-41166493	HEK293	kidney:	embryo
2	chr15:41166443-41166493	HEK293	kidney:	embryo
3	chr15:41166217-41166267	HMEC	breast:	n/a
4	chr15:41166166-41166216	NH-A	brain:	n/a
5	chr15:41166509-41166559	Hela-S3	cervix:	n/a
6	chr15:41166509-41166559	HRE	kidney:	n/a
7	chr15:41166042-41166092	AG09319	gingival:	n/a
8	chr15:41165181-41165231	HCPEpiC	choroid plexus:	n/a
9	chr15:41166632-41166682	NH-A	brain:	n/a
10	chr15:41166388-41166438	NHDF-neo	bronchial:	n/a
11	chr15:41167165-41167215	HAEpiC	amniotic membrane:	n/a
12	chr15:41165181-41165231	K562	blood:	n/a
13	chr15:41166632-41166682	GM12891	blood:	n/a
14	chr15:41166443-41166493	HNPCEpiC	eye:	n/a
15	chr15:41166166-41166216	ECC-1	luminal epithelium:	n/a
16	chr15:41165762-41165812	HCF	heart:	n/a
17	chr15:41166217-41166267	NHDF-neo	bronchial:	n/a
18	chr15:41166388-41166438	HAEpiC	amniotic membrane:	n/a
19	chr15:41166217-41166267	CMK	blood:	n/a
20	chr15:41166166-41166216	GM19239	blood:	n/a
21	chr15:41166509-41166559	SK-N-SH_RA	brain:	n/a
22	chr15:41166042-41166092	HRPEpiC	eye:	n/a
23	chr15:41166042-41166092	GM12891	blood:	n/a
24	chr15:41165762-41165812	GM19239	blood:	n/a
25	chr15:41166654-41166704	HMEC	breast:	n/a
26	chr15:41166509-41166559	HCF	heart:	n/a
27	chr15:41166632-41166682	AG09319	gingival:	n/a
28	chr15:41166166-41166216	PFSK-1	brain:	n/a
29	chr15:41166042-41166092	HNPCEpiC	eye:	n/a
30	chr15:41166388-41166438	AG09309	skin:	n/a
31	chr15:41166443-41166493	GM12891	blood:	n/a
32	chr15:41165181-41165231	HPAEpiC	pulmonary alveolar:	n/a
33	chr15:41165181-41165231	CMK	blood:	n/a
34	chr15:41165762-41165812	K562	blood:	n/a
35	chr15:41166217-41166267	LNCaP	prostate:	n/a
36	chr15:41166443-41166493	HMEC	breast:	n/a
37	chr15:41166388-41166438	AG10803	skin:	n/a
38	chr15:41165762-41165812	NHBE	bronchial:	n/a
39	chr15:41166388-41166438	HMEC	breast:	n/a
40	chr15:41166166-41166216	ProgFib	skin:	n/a
41	chr15:41166388-41166438	IMR90	lung:	fetal
42	chr15:41166632-41166682	SK-N-SH	brain:	n/a
43	chr15:41165762-41165812	GM06990	blood:	n/a
44	chr15:41166388-41166438	SAEC	small airway:	n/a
45	chr15:41166509-41166559	ProgFib	skin:	n/a
46	chr15:41166388-41166438	AG04449	skin:	fetal
47	chr15:41166388-41166438	HEK293	kidney:	embryo
48	chr15:41166166-41166216	HEEpiC	esophagus:	n/a
49	chr15:41166166-41166216	HNPCEpiC	eye:	n/a
50	chr15:41165181-41165231	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40856363..40858923-chr15:41165345..41167356,2	K562	blood:
2	chr15:41116410..41118480-chr15:41162646..41165359,2	MCF-7	breast:
3	chr15:41134365..41142873-chr15:41160505..41167459,15	MCF-7	breast:
4	chr15:41097815..41100803-chr15:41163733..41165563,2	K562	blood:
5	chr15:41147225..41150329-chr15:41164541..41167398,4	K562	blood:
6	chr15:41161907..41163827-chr15:41163924..41166003,2	K562	blood:
7	chr15:41150681..41151918-chr15:41165518..41166393,6	MCF-7	breast:
8	chr15:41165791..41166673-chr2:75937665..75938540,2	Hela-S3	cervix:
9	chr15:41165682..41166536-chr17:8076678..8077198,2	Hela-S3	cervix:
10	chr15:41066752..41068835-chr15:41164487..41166836,2	K562	blood:
11	chr15:41162876..41167684-chr15:41196844..41200482,5	MCF-7	breast:
12	chr15:41165742..41167870-chr15:41221501..41224188,2	MCF-7	breast:
13	chr15:41165944..41166690-chr2:73298549..73299123,2	Hela-S3	cervix:
14	chr15:41164378..41166011-chr15:41221238..41223138,2	MCF-7	breast:
15	chr15:41135079..41139908-chr15:41161283..41167324,7	MCF-7	breast:
16	chr15:41166323..41166984-chr15:75743572..75744484,2	Hela-S3	cervix:
17	chr15:41104808..41107536-chr15:41164582..41166423,2	MCF-7	breast:
18	chr15:41165629..41167892-chr15:41184991..41187244,2	K562	blood:
19	chr15:41163900..41166288-chr15:41184445..41186416,4	MCF-7	breast:
20	chr15:41164626..41166627-chr15:41240824..41242386,2	MCF-7	breast:
21	chr15:41165369..41165893-chr15:41184005..41184631,2	MCF-7	breast:
22	chr15:41165791..41166734-chr3:174158093..174159082,2	Hela-S3	cervix:
23	chr15:41165970..41166558-chr7:7679740..7680262,2	Hela-S3	cervix:
24	chr15:41164000..41165836-chr15:41190857..41193283,2	K562	blood:

Variant related genes	Relation type
ENSG00000264256	TF binding region
RHOV	TF binding region
ENSG00000264256	CpG island
RHOV	CpG island
ENSG00000177694	chromatin interactions
ENSG00000106399	chromatin interactions
ENSG00000261183	chromatin interactions
ENSG00000104129	chromatin interactions
ENSG00000005436	chromatin interactions
ENSG00000128891	chromatin interactions
ENSG00000259405	chromatin interactions
ENSG00000166145	chromatin interactions
ENSG00000251161	chromatin interactions
ENSG00000104142	chromatin interactions
ENSG00000166140	chromatin interactions
ENSG00000144040	chromatin interactions
ENSG00000200463	chromatin interactions
ENSG00000128917	chromatin interactions
ENSG00000169375	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371902151	chr15:41165124-41165125	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs542295276	chr15:41165125-41165126	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs184635660	chr15:41165192-41165193	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs201047149	chr15:41165206-41165207	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs111908877	chr15:41165233-41165234	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs146446256	chr15:41165255-41165256	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs376857228	chr15:41165334-41165335	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs140820332	chr15:41165403-41165404	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs149655270	chr15:41165409-41165410	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs145624117	chr15:41165442-41165443	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs553339259	chr15:41165468-41165469	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs532272641	chr15:41165472-41165473	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs148901787	chr15:41165487-41165488	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs568713452	chr15:41165552-41165553	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs531217839	chr15:41165620-41165621	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs200872723	chr15:41165634-41165635	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs200896433	chr15:41165648-41165649	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs547824549	chr15:41165661-41165662	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs567815459	chr15:41165716-41165717	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs115725732	chr15:41165737-41165738	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs1814692	chr15:41165739-41165740	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs368576335	chr15:41165743-41165744	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs370822502	chr15:41165746-41165747	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs3803351	chr15:41165762-41165763	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs539715035	chr15:41165783-41165784	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs556817611	chr15:41165797-41165798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs576316125	chr15:41165818-41165819	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs74011897	chr15:41165834-41165835	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs374385804	chr15:41165838-41165839	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs370523739	chr15:41165845-41165846	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs373925242	chr15:41165850-41165851	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs139898999	chr15:41165852-41165853	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
33	rs113277953	chr15:41165858-41165859	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs143571101	chr15:41165881-41165882	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs200398571	chr15:41165885-41165886	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs199624762	chr15:41165888-41165889	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs371263604	chr15:41165910-41165911	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs201868870	chr15:41165948-41165949	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs201669855	chr15:41165951-41165952	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs376125367	chr15:41165964-41165965	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs367824578	chr15:41165973-41165974	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
42	rs532339337	chr15:41165979-41165980	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
43	rs545741242	chr15:41166024-41166025	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
44	rs574848679	chr15:41166032-41166033	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
45	rs562793493	chr15:41166045-41166046	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
46	rs531548926	chr15:41166073-41166074	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
47	rs542362742	chr15:41166085-41166086	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
48	rs200584461	chr15:41166109-41166110	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
49	rs377271720	chr15:41166114-41166115	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
50	rs527349169	chr15:41166179-41166180	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	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
Glioblastoma multiforme	21510904	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41137400-41165800	Weak transcription	Right Atrium	heart
2	chr15:41150000-41165600	Weak transcription	Spleen	Spleen
3	chr15:41151600-41165400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:41163000-41165800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:41163400-41165600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:41163600-41165800	Flanking Active TSS	GM12878-XiMat	blood
7	chr15:41163600-41166000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:41163800-41165200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr15:41163800-41165200	Enhancers	Fetal Intestine Large	intestine
10	chr15:41163800-41165200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr15:41163800-41165400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr15:41163800-41165600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr15:41163800-41165600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:41163800-41165600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr15:41163800-41165800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:41163800-41165800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr15:41163800-41165800	Enhancers	Duodenum Mucosa	Duodenum
18	chr15:41163800-41165800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr15:41163800-41165800	Enhancers	HMEC	breast
20	chr15:41163800-41166200	Enhancers	Fetal Brain Male	brain
21	chr15:41164000-41165400	Weak transcription	K562	blood
22	chr15:41164000-41165600	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr15:41164200-41165800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr15:41164200-41166600	Active TSS	Esophagus	oesophagus
25	chr15:41164400-41165400	Weak transcription	Colonic Mucosa	Colon
26	chr15:41164400-41165600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr15:41164400-41166000	Enhancers	Gastric	stomach
28	chr15:41164600-41165200	Flanking Active TSS	Placenta	Placenta
29	chr15:41164600-41165400	Weak transcription	A549	lung
30	chr15:41164600-41165600	Enhancers	H9 Cell Line	embryonic stem cell
31	chr15:41164800-41165200	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr15:41164800-41165200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr15:41164800-41165200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr15:41164800-41165200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:41164800-41165200	Active TSS	Fetal Brain Female	brain
36	chr15:41164800-41165400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr15:41164800-41165400	Active TSS	Pancreas	Pancrea
38	chr15:41164800-41165800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:41165000-41165400	Transcr. at gene 5' and 3'	Hela-S3	cervix
40	chr15:41165000-41165800	Bivalent Enhancer	Stomach Mucosa	stomach
41	chr15:41165000-41166000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr15:41165000-41166000	Flanking Active TSS	NHEK	skin
43	chr15:41165200-41165400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr15:41165200-41165400	Bivalent Enhancer	Brain Anterior Caudate	brain
45	chr15:41165200-41165400	Enhancers	Brain Germinal Matrix	brain
46	chr15:41165200-41165400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr15:41165200-41165400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
48	chr15:41165200-41165600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
49	chr15:41165200-41165600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
50	chr15:41165200-41165600	Enhancers	Brain Inferior Temporal Lobe	brain

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