Variant report

Variant	rs4285452
Chromosome Location	chr8:130764791-130764792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10092783	0.90[GIH][hapmap]
rs4144738	0.88[GIH][hapmap]
rs4425724	0.86[GIH][hapmap]
rs4518624	0.86[GIH][hapmap]
rs4733729	0.88[GIH][hapmap]
rs7846627	0.86[GIH][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130754600-130766000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:130758200-130765400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:130759200-130765800	Strong transcription	NHEK	skin
4	chr8:130759800-130765800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:130760200-130765800	Strong transcription	Esophagus	oesophagus
6	chr8:130763400-130766200	Enhancers	Left Ventricle	heart
7	chr8:130763600-130766200	Enhancers	Liver	Liver
8	chr8:130763800-130764800	Enhancers	Right Atrium	heart
9	chr8:130763800-130765800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:130764000-130764800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:130764000-130765400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:130764000-130765800	Strong transcription	Spleen	Spleen
13	chr8:130764000-130766000	Enhancers	Fetal Heart	heart
14	chr8:130764000-130766200	Enhancers	Right Ventricle	heart
15	chr8:130764000-130766200	Enhancers	A549	lung
16	chr8:130764200-130765200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:130764200-130765400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:130764200-130765400	Enhancers	Adipose Nuclei	Adipose
19	chr8:130764200-130766400	Enhancers	Hela-S3	cervix
20	chr8:130764200-130766600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr8:130764200-130766800	Enhancers	Stomach Smooth Muscle	stomach
22	chr8:130764400-130765400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr8:130764400-130765400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:130764400-130765600	Weak transcription	Lung	lung
25	chr8:130764400-130765800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr8:130764400-130766000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr8:130764400-130766200	Enhancers	K562	blood
28	chr8:130764400-130766600	Enhancers	Fetal Muscle Leg	muscle
29	chr8:130764600-130764800	Enhancers	Fetal Muscle Trunk	muscle
30	chr8:130764600-130764800	Enhancers	Psoas Muscle	Psoas
31	chr8:130764600-130765800	Enhancers	Brain Anterior Caudate	brain
32	chr8:130764600-130766000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr8:130764600-130766200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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