Variant report

Variant	rs11634640
Chromosome Location	chr15:45996182-45996183
allele	A/G
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	SIN3A	chr15:45996123-45997193	H1-hESC	embryonic stem cell:	n/a	chr15:45996441-45996450
2	RAD21	chr15:45996163-45996448	H1-hESC	embryonic stem cell:	n/a	n/a
3	GTF2F1	chr15:45996141-45996548	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZNF143	chr15:45996082-45997025	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr15:45995911-45997033	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr15:45996020-45996310	GM12864	blood:	n/a	n/a
7	E2F6	chr15:45995821-45997041	H1-hESC	embryonic stem cell:	n/a	chr15:45996532-45996540 chr15:45996529-45996541 chr15:45996533-45996540 chr15:45996525-45996539 chr15:45996532-45996540 chr15:45996533-45996540 chr15:45996533-45996540 chr15:45996530-45996545 chr15:45996531-45996541
8	CTCF	chr15:45996060-45996210	HAc	cerebellar:	n/a	n/a
9	CTCF	chr15:45996040-45996190	WI-38	lung:	n/a	n/a
10	CTCF	chr15:45996100-45996350	BJ	skin:	n/a	n/a
11	CTCF	chr15:45996180-45996330	GM06990	blood:	n/a	n/a
12	E2F6	chr15:45995942-45996240	H1-hESC	embryonic stem cell:	n/a	n/a
13	USF2	chr15:45995849-45996433	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr15:45995811-45997022	H1-hESC	embryonic stem cell:	n/a	n/a
15	RAD21	chr15:45996118-45996560	H1-hESC	embryonic stem cell:	n/a	n/a
16	MYC	chr15:45995952-45996527	H1-hESC	embryonic stem cell:	n/a	n/a
17	MXI1	chr15:45996124-45996857	H1-hESC	embryonic stem cell:	n/a	n/a
18	USF1	chr15:45995770-45996223	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr15:45996169-45996627	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr15:45996160-45997083	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr15:45996080-45996230	HCT-116	colon:	n/a	n/a
22	MAX	chr15:45995903-45996944	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr15:45996100-45996250	HCT-116	colon:	n/a	n/a
24	CTBP2	chr15:45996170-45997065	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr15:45996120-45996270	HAc	cerebellar:	n/a	n/a

Variant related genes	Relation type
ENSG00000259200	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10643	1.00[ASN][1000 genomes]
rs11629585	1.00[ASN][1000 genomes]
rs2139647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2413787	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56108595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62006179	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62008310	1.00[ASN][1000 genomes]
rs62008318	1.00[ASN][1000 genomes]
rs62008319	1.00[ASN][1000 genomes]
rs62008320	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62008321	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715101	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904189	chr15:45821158-46298458	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv904191	chr15:45902779-46381874	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv523136	chr15:45990780-46158407	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45983400-45996800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr15:45983600-45996400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr15:45983800-45996200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr15:45984200-45996200	Weak transcription	Fetal Stomach	stomach
5	chr15:45984200-45996200	Weak transcription	NHDF-Ad	bronchial
6	chr15:45984400-45996400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:45985200-45996200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr15:45985400-45996400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr15:45985400-45996800	Weak transcription	HMEC	breast
10	chr15:45985800-45996200	Weak transcription	Gastric	stomach
11	chr15:45985800-45996400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr15:45985800-45996400	Weak transcription	Adipose Nuclei	Adipose
13	chr15:45985800-45996400	Weak transcription	Right Ventricle	heart
14	chr15:45986000-45996200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr15:45986000-45996400	Weak transcription	Aorta	Aorta
16	chr15:45986000-45996400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr15:45986000-45996400	Weak transcription	Spleen	Spleen
18	chr15:45986000-45996600	Weak transcription	Colonic Mucosa	Colon
19	chr15:45986200-45996400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr15:45986200-45996400	Weak transcription	Lung	lung
21	chr15:45986200-45996400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr15:45986400-45996200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:45987000-45996400	Weak transcription	Liver	Liver
24	chr15:45987000-45996400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr15:45987800-45996200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr15:45988200-45996200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr15:45988200-45996400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:45988200-45996400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr15:45988200-45996600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:45994600-45996400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:45994800-45996200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr15:45994800-45996200	Weak transcription	Esophagus	oesophagus
33	chr15:45994800-45996400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:45994800-45996400	Weak transcription	Pancreas	Pancrea
35	chr15:45994800-45996600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr15:45995000-45996600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:45995000-45996600	Weak transcription	NHEK	skin
38	chr15:45995800-45996600	Enhancers	GM12878-XiMat	blood
39	chr15:45996000-45996200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
40	chr15:45996000-45996200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr15:45996000-45996200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
42	chr15:45996000-45996200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
43	chr15:45996000-45996200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr15:45996000-45996200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr15:45996000-45996200	Enhancers	Colon Smooth Muscle	Colon
46	chr15:45996000-45996400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr15:45996000-45996400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
48	chr15:45996000-45996800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
49	chr15:45996000-45997800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr15:45996000-45998000	Active TSS	H9 Cell Line	embryonic stem cell

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