Variant report

Variant	rs11631294
Chromosome Location	chr15:75085814-75085815
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	POLR2A	chr15:75083936-75087476	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:75085394-75085923	GM12878	blood:	n/a	n/a
3	ZNF263	chr15:75085159-75086319	HEK293-T-REx	kidney:	n/a	chr15:75085405-75085414 chr15:75085736-75085745 chr15:75086206-75086215 chr15:75085729-75085750 chr15:75085729-75085738
4	POLR2A	chr15:75085186-75086189	GM12878	blood:	n/a	n/a
5	MAZ	chr15:75085189-75086313	GM12878	blood:	n/a	chr15:75086209-75086219 chr15:75085777-75085786
6	POLR2A	chr15:75085397-75085956	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:75084364-75086015	GM12892	blood:	n/a	n/a
8	POLR2A	chr15:75084074-75086357	GM12878	blood:	n/a	n/a
9	RUNX3	chr15:75084968-75085984	GM12878	blood:	n/a	n/a
10	MTA3	chr15:75083980-75086348	GM12878	blood:	n/a	n/a
11	MXI1	chr15:75085669-75086362	GM12878	blood:	n/a	chr15:75085771-75085786
12	POLR2A	chr15:75085456-75085836	GM12892	blood:	n/a	n/a
13	POLR2A	chr15:75083995-75086054	GM12892	blood:	n/a	n/a
14	POLR2A	chr15:75085569-75086434	HL-60	blood:	n/a	n/a
15	POLR2A	chr15:75085804-75085817	GM12878	blood:	n/a	n/a
16	FOXM1	chr15:75085638-75086346	GM12878	blood:	n/a	n/a
17	WRNIP1	chr15:75084037-75086173	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:75085754..75088425-chr15:75092010..75094083,2	MCF-7	breast:
2	chr15:75063446..75064012-chr15:75085580..75086332,2	MCF-7	breast:
3	chr15:75080218..75087203-chr15:75106250..75113071,13	MCF-7	breast:
4	chr15:75081397..75085815-chr15:75182279..75185381,4	MCF-7	breast:

Variant related genes	Relation type
CSK	TF binding region
MIR4513	TF binding region
ENSG00000140506	Chromatin interaction
ENSG00000178802	Chromatin interaction
ENSG00000261606	Chromatin interaction
ENSG00000103653	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11553762	0.92[ASN][1000 genomes]
rs11631682	0.90[ASN][1000 genomes]
rs11631689	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11631817	0.92[ASN][1000 genomes]
rs11632547	0.88[ASN][1000 genomes]
rs11632706	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11632814	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11632822	0.90[ASN][1000 genomes]
rs11633539	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11633861	0.86[ASN][1000 genomes]
rs11636256	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11637637	0.92[ASN][1000 genomes]
rs16972511	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16972853	0.92[ASN][1000 genomes]
rs16973078	0.82[ASN][1000 genomes]
rs17861124	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17861125	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17861130	0.83[ASN][1000 genomes]
rs17861138	0.86[ASN][1000 genomes]
rs17861139	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17861141	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17861142	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17861145	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2069519	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2069521	0.88[ASN][1000 genomes]
rs2069522	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2069524	0.86[ASN][1000 genomes]
rs2069525	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2069526	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35197434	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35331038	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35408600	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4646425	0.88[ASN][1000 genomes]
rs4646427	0.88[ASN][1000 genomes]
rs56066141	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56748048	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59902765	0.92[ASN][1000 genomes]
rs74025837	0.90[ASN][1000 genomes]
rs74025839	0.90[ASN][1000 genomes]
rs74025842	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74025843	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74025847	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs873192	0.80[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904380	chr15:74869438-75142761	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv833055	chr15:74988344-75166288	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75077800-75092000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:75079400-75093800	Weak transcription	Aorta	Aorta
3	chr15:75080800-75086000	Enhancers	Adipose Nuclei	Adipose
4	chr15:75080800-75088600	Enhancers	Stomach Mucosa	stomach
5	chr15:75081200-75091400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:75081800-75087600	Enhancers	Brain Substantia Nigra	brain
7	chr15:75081800-75092000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr15:75081800-75092000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr15:75082200-75092200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:75082400-75088000	Genic enhancers	Fetal Intestine Small	intestine
11	chr15:75082400-75098400	Weak transcription	Fetal Kidney	kidney
12	chr15:75082600-75086000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr15:75082600-75088400	Genic enhancers	Fetal Thymus	thymus
14	chr15:75082600-75090400	Weak transcription	HepG2	liver
15	chr15:75082600-75093200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr15:75082800-75086000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr15:75082800-75086000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr15:75082800-75086800	Weak transcription	Brain Germinal Matrix	brain
19	chr15:75083000-75086000	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr15:75083000-75086200	Enhancers	Osteobl	bone
21	chr15:75083000-75087200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr15:75083000-75089800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr15:75083000-75090400	Weak transcription	Dnd41	blood
24	chr15:75083000-75092000	Weak transcription	Hela-S3	cervix
25	chr15:75083000-75093000	Weak transcription	HUVEC	blood vessel
26	chr15:75083200-75086200	Enhancers	Brain Hippocampus Middle	brain
27	chr15:75083200-75086400	Enhancers	NH-A	brain
28	chr15:75083200-75086800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:75083200-75090400	Weak transcription	Fetal Brain Female	brain
30	chr15:75083200-75091800	Weak transcription	A549	lung
31	chr15:75083200-75092400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr15:75083200-75093600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr15:75083400-75086800	Weak transcription	K562	blood
34	chr15:75083400-75090600	Weak transcription	Fetal Lung	lung
35	chr15:75083800-75086000	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr15:75083800-75086000	Enhancers	Right Ventricle	heart
37	chr15:75083800-75086200	Enhancers	Right Atrium	heart
38	chr15:75083800-75086400	Enhancers	Placenta	Placenta
39	chr15:75083800-75087000	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr15:75083800-75087800	Enhancers	Brain Anterior Caudate	brain
41	chr15:75083800-75091600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:75084000-75086000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr15:75084000-75086000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr15:75084000-75086000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr15:75084000-75086000	Enhancers	Lung	lung
46	chr15:75084000-75086400	Genic enhancers	Thymus	Thymus
47	chr15:75084000-75087600	Genic enhancers	Primary monocytes fromperipheralblood	blood
48	chr15:75084200-75086000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr15:75084200-75086000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr15:75084200-75086000	Genic enhancers	Fetal Intestine Large	intestine

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