Variant report

Variant	rs13395564
Chromosome Location	chr2:182843044-182843045
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10169250	1.00[EUR][1000 genomes]
rs11885643	1.00[EUR][1000 genomes]
rs13384259	1.00[EUR][1000 genomes]
rs6433942	1.00[EUR][1000 genomes]
rs6741761	1.00[EUR][1000 genomes]
rs6757190	1.00[EUR][1000 genomes]
rs7582121	1.00[EUR][1000 genomes]
rs964700	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv834479	chr2:182738483-182905444	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	esv3440551	chr2:182832201-182874730	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182838000-182848600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:182838000-182849200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:182841400-182845400	Strong transcription	Fetal Thymus	thymus
4	chr2:182842000-182843200	Enhancers	NHEK	skin
5	chr2:182842000-182843400	Enhancers	Hela-S3	cervix
6	chr2:182842000-182843600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:182842000-182843800	Enhancers	HMEC	breast
8	chr2:182842200-182843400	Enhancers	NHDF-Ad	bronchial
9	chr2:182842200-182843800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:182842400-182843400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:182842400-182843400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:182842400-182843400	Strong transcription	Thymus	Thymus
13	chr2:182842400-182843600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:182842400-182843600	Enhancers	NH-A	brain
15	chr2:182842400-182843800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr2:182842600-182843800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:182842800-182843400	Enhancers	Placenta	Placenta
18	chr2:182843000-182843400	Enhancers	Esophagus	oesophagus

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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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