Variant report

Variant	rs706475
Chromosome Location	chr1:57343845-57343846
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1342433	1.00[EUR][1000 genomes]
rs1342434	1.00[EUR][1000 genomes]
rs17114511	1.00[EUR][1000 genomes]
rs57858297	1.00[EUR][1000 genomes]
rs6668097	1.00[EUR][1000 genomes]
rs72913434	1.00[EUR][1000 genomes]
rs856842	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:9 , 50 per page) page: 1

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