Variant report

Variant	rs62023501
Chromosome Location	chr15:53097970-53097971
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	MAX	chr15:53097665-53098588	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr15:53097820-53097970	GM12872	blood:	n/a	n/a
3	MYC	chr15:53097636-53098365	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr15:53097820-53097970	HRPEpiC	eye:	n/a	n/a
5	E2F6	chr15:53097490-53098615	H1-hESC	embryonic stem cell:	n/a	chr15:53097787-53097801 chr15:53097792-53097799 chr15:53097783-53097800 chr15:53098418-53098428 chr15:53097621-53097633
6	CTCF	chr15:53097680-53097970	SAEC	small airway:	n/a	chr15:53097735-53097748
7	MAX	chr15:53097651-53098569	H1-hESC	embryonic stem cell:	n/a	n/a
8	TAF1	chr15:53097795-53098047	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr15:53097811-53098098	H1-hESC	embryonic stem cell:	n/a	n/a
10	ZNF143	chr15:53097593-53098526	H1-hESC	embryonic stem cell:	n/a	chr15:53097872-53097890
11	TAF1	chr15:53097517-53098012	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr15:53097807-53098038	H1-hESC	embryonic stem cell:	n/a	n/a
13	SIN3A	chr15:53097664-53098506	H1-hESC	embryonic stem cell:	n/a	chr15:53097931-53097942 chr15:53098346-53098359
14	TBP	chr15:53097647-53098482	H1-hESC	embryonic stem cell:	n/a	n/a
15	E2F6	chr15:53097758-53098594	H1-hESC	embryonic stem cell:	n/a	chr15:53097787-53097801 chr15:53097792-53097799 chr15:53097783-53097800 chr15:53098418-53098428
16	POLR2A	chr15:53097494-53098661	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr15:53097820-53097970	GM12873	blood:	n/a	n/a
18	RAD21	chr15:53097624-53098014	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr15:53097563-53098522	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr15:53097660-53098048	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTBP2	chr15:53097720-53098705	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr15:53097523-53098169	H1-hESC	embryonic stem cell:	n/a	chr15:53097735-53097748
23	JUND	chr15:53097853-53098293	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr15:53097860-53098010	HMF	breast:	n/a	n/a
25	MAX	chr15:53097782-53098346	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr15:53097615-53098011	K562	blood:	n/a	chr15:53097735-53097748
27	RAD21	chr15:53097503-53098120	H1-hESC	embryonic stem cell:	n/a	n/a
28	USF2	chr15:53097815-53098054	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000259203	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72740241	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1046970	chr15:53065114-53142386	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
4	nsv569428	chr15:53069874-53140045	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53095600-53098600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
2	chr15:53095600-53098800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr15:53095800-53098400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr15:53095800-53098800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr15:53096000-53098400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr15:53096000-53098400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
7	chr15:53096000-53098400	Bivalent Enhancer	Fetal Brain Male	brain
8	chr15:53096000-53098600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr15:53096000-53098600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr15:53096000-53098600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr15:53096200-53098000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
12	chr15:53096200-53098000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
13	chr15:53096200-53098400	Bivalent Enhancer	Small Intestine	intestine
14	chr15:53096400-53098000	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr15:53096400-53098200	Active TSS	Aorta	Aorta
16	chr15:53096400-53098400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr15:53096400-53098600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr15:53096600-53098000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
19	chr15:53096600-53098200	Active TSS	H1 Cell Line	embryonic stem cell
20	chr15:53096600-53098200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr15:53096800-53098200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:53096800-53098200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:53096800-53098200	Bivalent/Poised TSS	HSMM	muscle
24	chr15:53096800-53098400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
25	chr15:53096800-53098400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
26	chr15:53096800-53098400	Bivalent Enhancer	Fetal Lung	lung
27	chr15:53097000-53098000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
28	chr15:53097000-53098200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:53097000-53098400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
30	chr15:53097000-53098400	Flanking Bivalent TSS/Enh	Thymus	Thymus
31	chr15:53097200-53098000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
32	chr15:53097200-53098200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:53097200-53098200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr15:53097200-53098200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:53097200-53098200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
36	chr15:53097200-53098200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:53097200-53098200	Bivalent Enhancer	Stomach Mucosa	stomach
38	chr15:53097200-53098400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
39	chr15:53097200-53098400	Bivalent/Poised TSS	Fetal Brain Female	brain
40	chr15:53097200-53098600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
41	chr15:53097200-53098600	Bivalent Enhancer	Lung	lung
42	chr15:53097400-53098000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
43	chr15:53097400-53098000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
44	chr15:53097400-53098000	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr15:53097400-53098000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
46	chr15:53097400-53098000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
47	chr15:53097400-53098200	Bivalent Enhancer	Fetal Thymus	thymus
48	chr15:53097400-53098200	Bivalent Enhancer	HUVEC	blood vessel
49	chr15:53097400-53098400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr15:53097400-53098600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon

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