Variant report

Variant	rs58262391
Chromosome Location	chr8:131408934-131408935
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131408686..131411047-chr8:131413909..131416189,2	K562	blood:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11776262	0.81[AFR][1000 genomes]
rs11784988	0.85[AFR][1000 genomes]
rs11785806	0.85[AFR][1000 genomes]
rs57213366	1.00[AFR][1000 genomes]
rs57315235	0.85[AFR][1000 genomes]
rs58498075	1.00[AFR][1000 genomes]
rs58664881	1.00[AFR][1000 genomes]
rs59411017	1.00[AFR][1000 genomes]
rs61578845	1.00[AFR][1000 genomes]
rs72724490	0.85[AFR][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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' 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	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
2	chr8:131374600-131409000	Weak transcription	Fetal Brain Female	brain
3	chr8:131383800-131409200	Weak transcription	Right Atrium	heart
4	chr8:131389400-131409200	Weak transcription	Pancreas	Pancrea
5	chr8:131395600-131434200	Weak transcription	Hela-S3	cervix
6	chr8:131398200-131413600	Weak transcription	Fetal Intestine Small	intestine
7	chr8:131398800-131417000	Weak transcription	Esophagus	oesophagus
8	chr8:131399400-131409600	Weak transcription	HMEC	breast
9	chr8:131399400-131419600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr8:131401600-131421800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:131402600-131418000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:131405200-131410000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:131405600-131409000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:131405600-131410800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:131405600-131412800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:131405600-131422800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:131405600-131423600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:131406800-131417000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:131407000-131410200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr8:131407000-131414600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:131407200-131409400	Enhancers	Ovary	ovary
22	chr8:131407200-131414400	Strong transcription	NHEK	skin
23	chr8:131407200-131414800	Strong transcription	A549	lung
24	chr8:131407400-131409600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:131407400-131413600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:131407400-131419600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr8:131407600-131409400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:131407600-131410000	Enhancers	HSMMtube	muscle
29	chr8:131407600-131410200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:131407800-131409000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr8:131407800-131409000	Weak transcription	Left Ventricle	heart
32	chr8:131407800-131409600	Enhancers	NHDF-Ad	bronchial
33	chr8:131407800-131409800	Enhancers	Fetal Muscle Leg	muscle
34	chr8:131407800-131410200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:131407800-131416800	Weak transcription	HepG2	liver
36	chr8:131407800-131417000	Weak transcription	Lung	lung
37	chr8:131407800-131419400	Weak transcription	Spleen	Spleen
38	chr8:131408000-131409000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:131408000-131409600	Enhancers	NHLF	lung
40	chr8:131408000-131409800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:131408000-131409800	Enhancers	Placenta	Placenta
42	chr8:131408000-131410000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:131408000-131412200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:131408000-131422200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr8:131408200-131409000	Enhancers	Placenta Amnion	Placenta Amnion
46	chr8:131408200-131410000	Enhancers	Adipose Nuclei	Adipose
47	chr8:131408400-131409200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:131408400-131409400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:131408400-131409400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:131408400-131409400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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