Variant report

Variant	rs6470001
Chromosome Location	chr8:122470161-122470162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10956044	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13274659	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2171348	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35404281	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871191	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6990539	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6991390	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7839349	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831445	chr8:122336877-122509300	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv891427	chr8:122411349-122472297	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
3	nsv527877	chr8:122426082-122472297	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	nsv1033501	chr8:122436332-122758651	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122467000-122472000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:122467200-122471800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:122467200-122471800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:122467200-122472000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:122467200-122481600	Weak transcription	NHLF	lung
6	chr8:122467400-122471800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:122467400-122471800	Weak transcription	HMEC	breast
8	chr8:122467400-122471800	Weak transcription	NHEK	skin
9	chr8:122467400-122471800	Weak transcription	Osteobl	bone
10	chr8:122467400-122472000	Weak transcription	NH-A	brain
11	chr8:122467600-122471800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:122467600-122471800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:122467600-122472000	Weak transcription	NHDF-Ad	bronchial
14	chr8:122467600-122472200	Weak transcription	Hela-S3	cervix
15	chr8:122467800-122470600	Weak transcription	HUVEC	blood vessel
16	chr8:122468000-122470800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:122468200-122470800	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:122468600-122471400	Weak transcription	Fetal Heart	heart
19	chr8:122468600-122487600	Weak transcription	Fetal Kidney	kidney

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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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