Variant report

Variant	rs706474
Chromosome Location	chr1:57343770-57343771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1887977	0.85[EUR][1000 genomes]
rs2269118	0.91[EUR][1000 genomes]
rs2300954	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2300955	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35562962	0.87[EUR][1000 genomes]
rs6683663	0.95[ASN][1000 genomes]
rs706473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72670327	0.85[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases
2	nsv508215	chr1:57319460-57351150	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57339200-57345600	Weak transcription	Fetal Intestine Small	intestine
2	chr1:57342800-57343800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:57343000-57344000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:57343000-57344000	Genic enhancers	Liver	Liver
5	chr1:57343200-57344400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:57343400-57344200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:57343400-57344200	Enhancers	Brain Germinal Matrix	brain
8	chr1:57343400-57344200	Enhancers	NHDF-Ad	bronchial
9	chr1:57343400-57344600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:57343400-57345600	Weak transcription	HepG2	liver

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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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