Variant report

Variant	rs956481
Chromosome Location	chr8:131695204-131695205
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:59938342..59941056-chr8:131692920..131695356,2	MCF-7	breast:
2	chr8:131694829..131697046-chr8:131698636..131700550,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136492	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10088420	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10095393	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10095479	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10095628	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10095820	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10096321	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10098463	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10101790	0.82[CEU][hapmap];0.89[JPT][hapmap]
rs10107223	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10108730	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10112041	0.90[ASN][1000 genomes]
rs10113164	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11985368	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs11993977	0.81[EUR][1000 genomes]
rs11995981	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1509847	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16893283	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16893288	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16904337	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16904339	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1912271	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1912272	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1961665	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28379502	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28428945	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28430960	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28870411	0.85[EUR][1000 genomes]
rs4294201	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4472534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4483174	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4560808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59406705	0.85[EUR][1000 genomes]
rs7002882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004166	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs715679	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72728275	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72728278	0.89[ASN][1000 genomes]
rs72728285	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73344752	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7822131	0.88[EUR][1000 genomes]
rs7831277	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7832079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7844774	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs952132	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915864	chr8:131509799-131754822	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2752684	chr8:131641096-131710094	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv612294	chr8:131645079-131923377	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv891448	chr8:131668278-131968469	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131692800-131696400	Weak transcription	Brain Germinal Matrix	brain
2	chr8:131693400-131696600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:131694000-131704400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:131694200-131695400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:131694400-131695400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:131694400-131695400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:131694400-131695400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr8:131694400-131695400	Enhancers	Pancreas	Pancrea
9	chr8:131694400-131695400	Flanking Active TSS	A549	lung
10	chr8:131694400-131695400	Enhancers	HepG2	liver
11	chr8:131694400-131695600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:131694400-131695600	Enhancers	Spleen	Spleen
13	chr8:131694400-131697600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:131694600-131695400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:131694600-131695400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:131694600-131695400	Flanking Active TSS	Hela-S3	cervix
17	chr8:131694800-131695400	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr8:131694800-131695400	Flanking Active TSS	Brain Substantia Nigra	brain
19	chr8:131694800-131695400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr8:131694800-131695400	Active TSS	Rectal Smooth Muscle	rectum
21	chr8:131694800-131695400	Enhancers	Right Atrium	heart
22	chr8:131694800-131695400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr8:131694800-131695400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr8:131694800-131695600	Enhancers	Esophagus	oesophagus
25	chr8:131694800-131697400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:131695000-131695400	Enhancers	H9 Cell Line	embryonic stem cell
27	chr8:131695000-131695400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:131695000-131695400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:131695000-131695400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr8:131695000-131695400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:131695000-131695400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr8:131695000-131695400	Enhancers	Gastric	stomach
33	chr8:131695000-131695400	Enhancers	Left Ventricle	heart
34	chr8:131695000-131695400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr8:131695000-131695400	Enhancers	Right Ventricle	heart
36	chr8:131695000-131695400	Flanking Active TSS	K562	blood
37	chr8:131695000-131695800	Enhancers	Brain Cingulate Gyrus	brain
38	chr8:131695200-131695400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:131695200-131695400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr8:131695200-131695400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:131695200-131695400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr8:131695200-131695400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:131695200-131695400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:131695200-131695400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:131695200-131695400	Enhancers	Adipose Nuclei	Adipose
46	chr8:131695200-131695400	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr8:131695200-131695400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:131695200-131695400	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr8:131695200-131695400	Active TSS	Stomach Smooth Muscle	stomach
50	chr8:131695200-131695400	Enhancers	NH-A	brain

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