Variant report

Variant	rs2350585
Chromosome Location	chr8:62493346-62493347
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11782345	0.84[CHB][hapmap]
rs11984541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1574196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2882460	0.84[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs60403482	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66516703	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66795450	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7017995	0.84[ASN][1000 genomes]
rs7822250	0.88[CEU][hapmap];0.89[CHB][hapmap];0.86[ASN][1000 genomes]
rs7834148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836217	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv1032489	chr8:62450784-62555994	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv539635	chr8:62450784-62555994	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv967596	chr8:62489340-62494513	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62411000-62505800	Weak transcription	Brain Angular Gyrus	brain
2	chr8:62411200-62493800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:62414800-62503400	Weak transcription	Fetal Heart	heart
4	chr8:62449800-62503600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:62456600-62503800	Weak transcription	Stomach Mucosa	stomach
6	chr8:62457000-62496600	Weak transcription	Brain Hippocampus Middle	brain
7	chr8:62457000-62503000	Weak transcription	HSMMtube	muscle
8	chr8:62458000-62497000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr8:62460200-62495800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:62464000-62494000	Weak transcription	HUVEC	blood vessel
11	chr8:62466800-62508600	Weak transcription	Pancreas	Pancrea
12	chr8:62468600-62549000	Weak transcription	Right Ventricle	heart
13	chr8:62474800-62493400	Weak transcription	HMEC	breast
14	chr8:62474800-62496600	Weak transcription	Placenta	Placenta
15	chr8:62480000-62503600	Weak transcription	NHEK	skin
16	chr8:62481000-62494000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr8:62481600-62493400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:62484200-62503600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr8:62487000-62493800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:62487000-62494800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:62487400-62494400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:62487800-62494400	Weak transcription	Colonic Mucosa	Colon
23	chr8:62488600-62493600	Weak transcription	Fetal Stomach	stomach
24	chr8:62488800-62493400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr8:62489000-62502400	Weak transcription	Aorta	Aorta
26	chr8:62489000-62505000	Weak transcription	Fetal Brain Male	brain
27	chr8:62489000-62508200	Weak transcription	Left Ventricle	heart
28	chr8:62489200-62493800	Weak transcription	Ovary	ovary
29	chr8:62489200-62496600	Weak transcription	NHLF	lung
30	chr8:62489200-62505800	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:62489200-62528800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr8:62489400-62493400	Weak transcription	HSMM	muscle
33	chr8:62489400-62493800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:62489400-62494000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:62491400-62494200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:62491400-62494200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:62491600-62493400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:62491600-62493800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:62491600-62494000	Strong transcription	Adipose Nuclei	Adipose
40	chr8:62491600-62494200	ZNF genes & repeats	Fetal Brain Female	brain
41	chr8:62491600-62494200	ZNF genes & repeats	Fetal Intestine Small	intestine
42	chr8:62491800-62494400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:62492200-62493400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:62492200-62494000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
45	chr8:62492200-62494000	ZNF genes & repeats	Brain Germinal Matrix	brain
46	chr8:62492200-62494200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:62492400-62494400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:62492400-62497600	Weak transcription	Gastric	stomach
49	chr8:62492600-62493400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
50	chr8:62492600-62493400	ZNF genes & repeats	Brain Cingulate Gyrus	brain

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