Variant report

Variant	rs17131475
Chromosome Location	chr1:71340971-71340972
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12067572	1.00[EUR][1000 genomes]
rs12067990	1.00[EUR][1000 genomes]
rs2068651	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	esv1845198	chr1:71274759-71514969	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv830148	chr1:71310366-71483932	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71330800-71343200	Weak transcription	K562	blood
2	chr1:71339000-71341000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:71339800-71341000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:71339800-71341000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:71339800-71341000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:71339800-71341000	Enhancers	Fetal Heart	heart
7	chr1:71339800-71341400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:71339800-71341400	Enhancers	Aorta	Aorta
9	chr1:71339800-71341600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:71340000-71341000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:71340000-71341000	Enhancers	NHDF-Ad	bronchial
12	chr1:71340200-71341000	Enhancers	NHEK	skin
13	chr1:71340200-71341800	Enhancers	Adipose Nuclei	Adipose
14	chr1:71340600-71342000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:71340800-71341000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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