Variant report

Variant	rs6989927
Chromosome Location	chr8:124422687-124422688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124419214..124422869-chr8:124424403..124427101,4	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10087527	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10089561	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10110826	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10216826	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10956129	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12234925	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1817527	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35680076	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4541891	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4871365	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4871375	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4871376	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6470148	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6470151	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7004908	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7005105	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7822727	0.81[AMR][1000 genomes]
rs7838923	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7841922	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9297669	0.83[AMR][1000 genomes];0.82[EUR][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:23 , 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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links