Variant report

Variant	rs62007170
Chromosome Location	chr15:77306137-77306138
allele	C/T
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	MTA3	chr15:77305971-77307297	GM12878	blood:	n/a	n/a
2	CTCF	chr15:77306134-77306384	GM12878	blood:	n/a	chr15:77306244-77306253
3	PAX5	chr15:77306005-77307329	GM12878	blood:	n/a	chr15:77307298-77307307
4	RUNX3	chr15:77306135-77307244	GM12878	blood:	n/a	n/a
5	EP300	chr15:77306101-77307179	GM12878	blood:	n/a	chr15:77306289-77306298
6	JUND	chr15:77305916-77306695	HCT-116	colon:	n/a	chr15:77306288-77306298 chr15:77306288-77306298 chr15:77306288-77306298 chr15:77306287-77306298 chr15:77306288-77306297 chr15:77306288-77306298
7	CTCF	chr15:77306100-77306250	GM12866	blood:	n/a	n/a
8	FOS	chr15:77306132-77306438	MCF10A-Er-Src	breast:	n/a	chr15:77306288-77306298 chr15:77306288-77306298 chr15:77306288-77306298 chr15:77306288-77306297 chr15:77306288-77306298
9	STAT5A	chr15:77305138-77306140	GM12878	blood:	n/a	chr15:77305690-77305698 chr15:77306040-77306048
10	JUND	chr15:77306003-77306609	HCT-116	colon:	n/a	chr15:77306288-77306298 chr15:77306288-77306298 chr15:77306288-77306298 chr15:77306287-77306298 chr15:77306288-77306297 chr15:77306288-77306298
11	POLR2A	chr15:77306091-77306455	HCT-116	colon:	n/a	n/a
12	FOSL2	chr15:77306121-77306421	HepG2	liver:	n/a	chr15:77306288-77306298 chr15:77306288-77306298 chr15:77306288-77306298 chr15:77306288-77306297 chr15:77306288-77306298
13	CTCF	chr15:77306000-77306290	NHEK	skin:	n/a	chr15:77306244-77306253
14	CTCF	chr15:77306120-77306270	HMEC	breast:	n/a	chr15:77306244-77306253
15	RUNX3	chr15:77305971-77307335	GM12878	blood:	n/a	n/a
16	FOSL1	chr15:77305930-77306646	HCT-116	colon:	n/a	chr15:77306288-77306298 chr15:77306288-77306298 chr15:77306288-77306298 chr15:77306288-77306297 chr15:77306288-77306298
17	CTCF	chr15:77306120-77306270	NHEK	skin:	n/a	chr15:77306244-77306253
18	MAZ	chr15:77306118-77307161	GM12878	blood:	n/a	chr15:77306289-77306298
19	BHLHE40	chr15:77306097-77307171	GM12878	blood:	n/a	chr15:77306365-77306381
20	FOSL1	chr15:77306029-77306602	HCT-116	colon:	n/a	chr15:77306288-77306298 chr15:77306288-77306298 chr15:77306288-77306298 chr15:77306288-77306297 chr15:77306288-77306298
21	FOSL1	chr15:77306095-77306398	K562	blood:	n/a	chr15:77306288-77306298 chr15:77306288-77306298 chr15:77306288-77306298 chr15:77306288-77306297 chr15:77306288-77306298
22	BATF	chr15:77306056-77306497	GM12878	blood:	n/a	chr15:77306290-77306300 chr15:77306289-77306300 chr15:77306286-77306296
23	WRNIP1	chr15:77306089-77307230	GM12878	blood:	n/a	n/a
24	ZNF143	chr15:77306090-77306997	GM12878	blood:	n/a	n/a
25	EP300	chr15:77306131-77307213	GM12878	blood:	n/a	chr15:77306289-77306298
26	NFATC1	chr15:77305988-77307100	GM12878	blood:	n/a	n/a
27	ATF2	chr15:77306056-77307216	GM12878	blood:	n/a	n/a
28	EBF1	chr15:77306118-77307420	GM12878	blood:	n/a	n/a
29	CHD1	chr15:77306089-77307083	GM12878	blood:	n/a	n/a
30	FOXM1	chr15:77305905-77306864	GM12878	blood:	n/a	n/a
31	CTCF	chr15:77306040-77306190	GM12869	blood:	n/a	n/a
32	IRF4	chr15:77306104-77306424	GM12878	blood:	n/a	n/a
33	TCF12	chr15:77305862-77306610	ECC-1	luminal epithelium:	n/a	chr15:77306132-77306139
34	NFATC1	chr15:77305991-77307136	GM12878	blood:	n/a	n/a
35	FOS	chr15:77306135-77306465	MCF10A-Er-Src	breast:	n/a	chr15:77306288-77306298 chr15:77306288-77306298 chr15:77306288-77306298 chr15:77306288-77306297 chr15:77306288-77306298
36	ZEB1	chr15:77305930-77306517	GM12878	blood:	n/a	n/a
37	CTCF	chr15:77306100-77306250	GM12867	blood:	n/a	n/a
38	BATF	chr15:77306094-77306473	GM12878	blood:	n/a	chr15:77306290-77306300 chr15:77306289-77306300 chr15:77306286-77306296
39	POLR2A	chr15:77306101-77307445	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:77265440..77266266-chr15:77305789..77306421,2	MCF-7	breast:
2	chr15:77305426..77307546-chr15:77319169..77320927,2	K562	blood:

Variant related genes	Relation type
PSTPIP1	TF binding region
ENSG00000140368	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11072639	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2469235	0.85[ASN][1000 genomes]
rs3812912	0.82[ASN][1000 genomes]
rs4075475	0.82[ASN][1000 genomes]
rs57036819	0.85[ASN][1000 genomes]
rs62007171	0.82[AFR][1000 genomes]
rs74024533	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3367577	chr15:77015618-77442634	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	esv2758388	chr15:77170550-77373448	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv2760041	chr15:77170550-77373448	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv833058	chr15:77235895-77393640	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv517068	chr15:77254544-77381222	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv1808532	chr15:77257714-77332539	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1043017	chr15:77266776-77309938	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1035874	chr15:77266776-77328742	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv1822592	chr15:77283956-77332539	Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv570111	chr15:77286693-77332606	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv1048833	chr15:77294593-77339260	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv1848501	chr15:77301357-77327571	Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv1804890	chr15:77302969-77332482	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	esv1836749	chr15:77302969-77332606	Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv904414	chr15:77304310-77400388	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77289200-77311200	Weak transcription	Aorta	Aorta
2	chr15:77289400-77310000	Weak transcription	Colon Smooth Muscle	Colon
3	chr15:77296600-77306600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr15:77302800-77307600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:77303000-77307400	Enhancers	Spleen	Spleen
6	chr15:77303000-77319600	Weak transcription	Pancreas	Pancrea
7	chr15:77304400-77309000	Enhancers	Primary B cells from peripheral blood	blood
8	chr15:77304600-77310600	Enhancers	Primary B cells from cord blood	blood
9	chr15:77304800-77312600	Enhancers	Fetal Thymus	thymus
10	chr15:77305000-77306200	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr15:77305000-77306200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr15:77305000-77306200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr15:77305000-77306800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr15:77305000-77307200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr15:77305000-77307200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr15:77305000-77307800	Enhancers	Thymus	Thymus
17	chr15:77305000-77310200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr15:77305200-77306600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr15:77305200-77306600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr15:77305200-77307000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr15:77305200-77307600	Enhancers	Esophagus	oesophagus
22	chr15:77305200-77309000	Enhancers	Primary hematopoietic stem cells	blood
23	chr15:77305200-77309000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr15:77305400-77306200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr15:77305400-77307200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr15:77305400-77308400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr15:77305600-77306200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr15:77305600-77307200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr15:77305600-77308800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr15:77305600-77309000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr15:77305800-77306600	Weak transcription	Placenta	Placenta
32	chr15:77305800-77306600	Enhancers	NHEK	skin
33	chr15:77305800-77307200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr15:77305800-77307400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr15:77305800-77307600	Enhancers	Duodenum Mucosa	Duodenum
36	chr15:77305800-77308800	Enhancers	Adipose Nuclei	Adipose
37	chr15:77306000-77306200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:77306000-77306400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr15:77306000-77306400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr15:77306000-77306400	Enhancers	HMEC	breast
41	chr15:77306000-77306600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr15:77306000-77306800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr15:77306000-77306800	Enhancers	Stomach Mucosa	stomach
44	chr15:77306000-77307000	Flanking Active TSS	GM12878-XiMat	blood
45	chr15:77306000-77311400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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