Variant report

Variant	rs7014801
Chromosome Location	chr8:119475618-119475619
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10104899	1.00[ASN][1000 genomes]
rs16891049	1.00[ASN][1000 genomes]
rs16891069	1.00[ASN][1000 genomes]
rs16891083	0.85[ASN][1000 genomes]
rs16891084	0.85[ASN][1000 genomes]
rs28415419	1.00[ASN][1000 genomes]
rs4074502	0.85[ASN][1000 genomes]
rs4077318	0.85[ASN][1000 genomes]
rs4301473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57009141	0.85[ASN][1000 genomes]
rs60628700	0.85[ASN][1000 genomes]
rs60663612	0.85[ASN][1000 genomes]
rs73313438	1.00[ASN][1000 genomes]
rs73313459	1.00[ASN][1000 genomes]
rs73313477	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73313478	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73313481	1.00[ASN][1000 genomes]
rs73313486	1.00[ASN][1000 genomes]
rs73313487	1.00[ASN][1000 genomes]
rs73315377	0.85[ASN][1000 genomes]
rs73315379	0.85[ASN][1000 genomes]
rs73315381	0.85[ASN][1000 genomes]
rs73315386	0.85[ASN][1000 genomes]
rs7813628	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7827972	0.93[ASN][1000 genomes]
rs7828344	1.00[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	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv831443	chr8:119390590-119590662	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119462600-119476000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:119462600-119485000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr8:119467400-119476000	Weak transcription	Aorta	Aorta
4	chr8:119474800-119476200	Enhancers	Spleen	Spleen
5	chr8:119475400-119476000	Enhancers	Left Ventricle	heart
6	chr8:119475400-119476200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:119475400-119476200	Enhancers	Brain Angular Gyrus	brain
8	chr8:119475400-119476800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:119475600-119475800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:119475600-119475800	ZNF genes & repeats	Esophagus	oesophagus
11	chr8:119475600-119475800	Enhancers	Ovary	ovary
12	chr8:119475600-119475800	Enhancers	Pancreas	Pancrea
13	chr8:119475600-119475800	Enhancers	HSMMtube	muscle
14	chr8:119475600-119475800	Enhancers	Osteobl	bone
15	chr8:119475600-119476000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:119475600-119476200	Enhancers	Adipose Nuclei	Adipose
17	chr8:119475600-119476200	Enhancers	Fetal Muscle Trunk	muscle
18	chr8:119475600-119476200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr8:119475600-119476200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr8:119475600-119476400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:119475600-119476400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:119475600-119476600	Weak transcription	Brain Hippocampus Middle	brain
23	chr8:119475600-119476800	Enhancers	NHDF-Ad	bronchial
24	chr8:119475600-119477000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:119475600-119480600	Weak transcription	Lung	lung

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