Variant report

Variant	rs6990190
Chromosome Location	chr8:103981915-103981916
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10086253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10092859	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113831	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775791	1.00[ASN][1000 genomes]
rs16869922	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869925	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869926	1.00[ASN][1000 genomes]
rs6468851	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468854	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468855	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468856	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984955	1.00[ASN][1000 genomes]
rs7816287	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827768	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828471	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837635	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840911	0.94[EUR][1000 genomes];1.00[ASN][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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	esv1803798	chr8:103974458-103987922	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103974400-103989200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:103974400-103989200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:103974800-103982200	Weak transcription	GM12878-XiMat	blood
4	chr8:103977000-103989200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:103977200-103985200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:103979000-103982800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr8:103979600-103982400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr8:103980200-103982000	Enhancers	Brain Hippocampus Middle	brain
9	chr8:103980600-103982400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr8:103981200-103982400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:103981200-103992600	Weak transcription	Brain Substantia Nigra	brain
12	chr8:103981400-103982600	Weak transcription	Fetal Lung	lung
13	chr8:103981400-103985600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:103981600-103982600	Enhancers	Ovary	ovary
15	chr8:103981800-103982600	Enhancers	Fetal Stomach	stomach
16	chr8:103981800-103983800	Enhancers	Pancreas	Pancrea

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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