Variant report

Variant	rs62510252
Chromosome Location	chr8:61504853-61504854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs62512702	1.00[AMR][1000 genomes]
rs62524908	1.00[AMR][1000 genomes]
rs62524913	1.00[AMR][1000 genomes]
rs62524949	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv870164	chr8:61484657-61529482	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv6218	chr8:61485410-61530933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1796952	chr8:61492893-61531418	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61448600-61505400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:61466400-61516800	Weak transcription	Stomach Mucosa	stomach
3	chr8:61467200-61515400	Weak transcription	Fetal Brain Male	brain
4	chr8:61476200-61517000	Weak transcription	Brain Angular Gyrus	brain
5	chr8:61481000-61527400	Weak transcription	Psoas Muscle	Psoas
6	chr8:61482800-61505800	Weak transcription	Esophagus	oesophagus
7	chr8:61483400-61505800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:61483800-61515800	Weak transcription	Colonic Mucosa	Colon
9	chr8:61485400-61515400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:61489400-61506600	Weak transcription	Fetal Brain Female	brain
11	chr8:61489400-61514000	Weak transcription	Right Ventricle	heart
12	chr8:61489600-61506000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:61489600-61510200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:61491000-61505800	Weak transcription	Fetal Heart	heart
15	chr8:61491400-61517000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:61493600-61510400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:61493600-61518000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:61495000-61505200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:61495600-61516600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:61495600-61517000	Weak transcription	Pancreas	Pancrea
21	chr8:61495600-61517200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:61495600-61517600	Weak transcription	Spleen	Spleen
23	chr8:61496400-61515400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr8:61496600-61505600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:61496600-61508600	Strong transcription	HSMM	muscle
26	chr8:61496600-61511000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:61496600-61515000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr8:61496800-61507000	Strong transcription	NH-A	brain
29	chr8:61496800-61508400	Strong transcription	Fetal Intestine Large	intestine
30	chr8:61496800-61515200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:61496800-61517200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:61497000-61505000	Weak transcription	Brain Substantia Nigra	brain
33	chr8:61497000-61505400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr8:61497000-61505800	Weak transcription	Brain Hippocampus Middle	brain
35	chr8:61497000-61511800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:61497200-61505400	Weak transcription	Primary T cells from cord blood	blood
37	chr8:61497400-61505600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:61497400-61512000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:61498000-61505800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:61498200-61517200	Weak transcription	Gastric	stomach
41	chr8:61498800-61505200	Weak transcription	Brain Germinal Matrix	brain
42	chr8:61498800-61505400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr8:61498800-61505800	Weak transcription	Lung	lung
44	chr8:61498800-61505800	Weak transcription	Thymus	Thymus
45	chr8:61498800-61506000	Weak transcription	Aorta	Aorta
46	chr8:61499000-61505200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr8:61499000-61505800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:61499200-61505600	Weak transcription	HepG2	liver
49	chr8:61499400-61516600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:61499600-61509200	Weak transcription	Fetal Intestine Small	intestine

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