Variant report

Variant	rs940283
Chromosome Location	chr1:77737217-77737218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1010195	0.95[CHB][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];0.89[TSI][hapmap]
rs10493604	0.90[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.89[TSI][hapmap]
rs12091579	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12095740	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12407610	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1377735	0.90[CHB][hapmap]
rs1592340	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17100308	1.00[CHB][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2272161	0.92[ASN][1000 genomes]
rs2815321	0.99[ASN][1000 genomes]
rs2815322	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34422174	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3921995	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72641172	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72641173	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72641174	0.81[EUR][1000 genomes];0.80[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	nsv432398	chr1:77707391-77740836	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77736400-77740600	Enhancers	NHDF-Ad	bronchial
2	chr1:77736600-77738400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:77737000-77737400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:77737000-77738000	Enhancers	HSMMtube	muscle
5	chr1:77737000-77738200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:77737000-77738200	Enhancers	Osteobl	bone
7	chr1:77737000-77738400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:77737000-77738400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:77737000-77738400	Enhancers	NHLF	lung
10	chr1:77737000-77738800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:77737200-77737800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:77737200-77738000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:77737200-77738400	Enhancers	HSMM	muscle
14	chr1:77737200-77747400	Weak transcription	Aorta	Aorta

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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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