Variant report

Variant	rs62523171
Chromosome Location	chr8:124423254-124423255
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs140613	1.00[AFR][1000 genomes]
rs17254069	1.00[AFR][1000 genomes]
rs17254421	1.00[AFR][1000 genomes]
rs17337621	1.00[AFR][1000 genomes]
rs17338552	1.00[AFR][1000 genomes]
rs17338860	1.00[AFR][1000 genomes]
rs17339357	1.00[AFR][1000 genomes]
rs62518434	1.00[AFR][1000 genomes]
rs62518437	1.00[AFR][1000 genomes]
rs62518438	1.00[AFR][1000 genomes]
rs62518439	1.00[AFR][1000 genomes]
rs62518440	1.00[AFR][1000 genomes]
rs62520862	1.00[AFR][1000 genomes]
rs62520863	1.00[AFR][1000 genomes]
rs62520870	1.00[AFR][1000 genomes]
rs62520874	1.00[AFR][1000 genomes]
rs62520911	1.00[AFR][1000 genomes]
rs62520913	1.00[AFR][1000 genomes]
rs62520914	1.00[AFR][1000 genomes]
rs62520917	1.00[AFR][1000 genomes]
rs62520918	1.00[AFR][1000 genomes]
rs62520919	1.00[AFR][1000 genomes]
rs62520920	1.00[AFR][1000 genomes]
rs62521279	1.00[AFR][1000 genomes]
rs62521284	1.00[AFR][1000 genomes]
rs62521289	1.00[AFR][1000 genomes]
rs62521291	1.00[AFR][1000 genomes]
rs6999582	1.00[AFR][1000 genomes]
rs7832861	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3415547	chr8:124420820-124444289	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 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	chr8:124409400-124424800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:124409400-124427600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:124409400-124427600	Weak transcription	A549	lung
4	chr8:124409400-124428000	Weak transcription	Brain Anterior Caudate	brain
5	chr8:124409600-124424600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr8:124409600-124424800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:124409800-124424600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:124409800-124427800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:124414400-124425000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:124416200-124424200	Weak transcription	Ovary	ovary
11	chr8:124416200-124424800	Weak transcription	Fetal Intestine Small	intestine
12	chr8:124416200-124425800	Weak transcription	Left Ventricle	heart
13	chr8:124416200-124427800	Weak transcription	Pancreas	Pancrea
14	chr8:124416800-124424200	Weak transcription	Fetal Heart	heart
15	chr8:124418400-124428200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:124420200-124424800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:124420400-124425000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr8:124421200-124424200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:124421400-124428200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr8:124421800-124424200	Weak transcription	HepG2	liver
21	chr8:124422000-124427800	Weak transcription	Right Ventricle	heart
22	chr8:124422400-124428200	Weak transcription	Aorta	Aorta
23	chr8:124422600-124428000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:124422800-124425000	Weak transcription	HSMM	muscle
25	chr8:124422800-124428200	Weak transcription	Brain Cingulate Gyrus	brain

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