Variant report

Variant	rs6946783
Chromosome Location	chr7:79609337-79609338
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10237226	0.99[ASN][1000 genomes]
rs10259572	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11983179	0.89[EUR][1000 genomes]
rs12666674	1.00[ASN][1000 genomes]
rs12667856	0.99[ASN][1000 genomes]
rs12670640	1.00[ASN][1000 genomes]
rs12670674	1.00[ASN][1000 genomes]
rs17153199	1.00[ASN][1000 genomes]
rs4574785	1.00[ASN][1000 genomes]
rs56016880	0.89[EUR][1000 genomes]
rs56150062	0.89[EUR][1000 genomes]
rs56191620	1.00[ASN][1000 genomes]
rs62461683	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62461684	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6466880	0.89[EUR][1000 genomes]
rs6466884	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs763822	0.89[EUR][1000 genomes]
rs7811115	0.89[EUR][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	nsv888522	chr7:79402551-79619012	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1032480	chr7:79558011-79625086	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79607400-79610000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:79607400-79614200	Enhancers	NHLF	lung
3	chr7:79607600-79611800	Enhancers	Fetal Lung	lung
4	chr7:79608000-79611400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:79608200-79609400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:79608200-79612400	Enhancers	Hela-S3	cervix
7	chr7:79608600-79610000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:79608600-79610000	Enhancers	HUVEC	blood vessel
9	chr7:79608600-79610200	Enhancers	NHDF-Ad	bronchial
10	chr7:79608600-79611600	Enhancers	Osteobl	bone
11	chr7:79608800-79609800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:79608800-79610200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:79609000-79609400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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