Variant report

Variant	rs62530739
Chromosome Location	chr8:125708475-125708476
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125707388..125710069-chr8:125729012..125730641,2	MCF-7	breast:
2	chr8:125706593..125708735-chr8:125715308..125717411,2	MCF-7	breast:
3	chr8:125704431..125707211-chr8:125707702..125710134,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10090511	0.86[EUR][1000 genomes]
rs10956195	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10956197	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12543812	0.89[ASN][1000 genomes]
rs2116082	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3857954	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6985856	0.88[ASN][1000 genomes]
rs6998715	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	esv1795075	chr8:125692343-125713791	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125701000-125721400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:125701400-125711400	Weak transcription	HSMMtube	muscle
3	chr8:125701600-125713200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:125701600-125713800	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:125701600-125717000	Weak transcription	Thymus	Thymus
6	chr8:125701800-125713400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:125701800-125714800	Weak transcription	NHEK	skin
8	chr8:125702000-125712200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:125702600-125710000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:125702600-125711000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:125702600-125711600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:125702600-125711600	Weak transcription	Right Ventricle	heart
13	chr8:125702600-125730800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:125702800-125711200	Weak transcription	Placenta	Placenta
15	chr8:125702800-125711600	Weak transcription	Psoas Muscle	Psoas
16	chr8:125702800-125714800	Weak transcription	Fetal Kidney	kidney
17	chr8:125702800-125721400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:125702800-125721400	Weak transcription	Fetal Lung	lung
19	chr8:125703000-125709000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:125703000-125711000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:125703000-125711000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr8:125703000-125711200	Weak transcription	Osteobl	bone
23	chr8:125703000-125711400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:125703000-125711400	Weak transcription	Right Atrium	heart
25	chr8:125703000-125711400	Weak transcription	NHDF-Ad	bronchial
26	chr8:125703000-125711600	Weak transcription	NHLF	lung
27	chr8:125703000-125711800	Weak transcription	Brain Anterior Caudate	brain
28	chr8:125703000-125720600	Weak transcription	Fetal Thymus	thymus
29	chr8:125703400-125711200	Weak transcription	Fetal Brain Male	brain
30	chr8:125703400-125712600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:125703600-125711600	Weak transcription	Brain Angular Gyrus	brain
32	chr8:125704400-125710000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:125704400-125711400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:125704800-125711600	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:125704800-125716600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr8:125705000-125711600	Weak transcription	Small Intestine	intestine
37	chr8:125705000-125722200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr8:125705200-125712000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:125705400-125713200	Weak transcription	Colonic Mucosa	Colon
40	chr8:125705600-125710200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:125705600-125711400	Weak transcription	Left Ventricle	heart
42	chr8:125705600-125711400	Weak transcription	Pancreas	Pancrea
43	chr8:125705600-125713800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr8:125705600-125720000	Weak transcription	Lung	lung
45	chr8:125705800-125711400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr8:125706000-125711400	Weak transcription	Fetal Stomach	stomach
47	chr8:125706000-125719000	Weak transcription	Esophagus	oesophagus
48	chr8:125706600-125710400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr8:125706600-125710400	Weak transcription	Spleen	Spleen
50	chr8:125706600-125711400	Weak transcription	Primary hematopoietic stem cells	blood

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