Variant report

Variant	rs1446520
Chromosome Location	chr2:113827128-113827129
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:15)

rs_ID	r²[population]
rs10179714	0.94[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes]
rs10184277	1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10496448	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1446519	1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17042709	0.87[CHB][hapmap]
rs17042735	0.87[CHB][hapmap]
rs17042786	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs28928286	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs3752739	0.87[CHB][hapmap]
rs3811049	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3811050	0.83[CHB][hapmap]
rs3811053	0.83[JPT][hapmap]
rs6756735	0.81[CHB][hapmap];1.00[EUR][1000 genomes]
rs7558672	1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7575934	0.94[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][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	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv2881	chr2:113800805-113846597	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113825200-113827800	Enhancers	Fetal Intestine Large	intestine
2	chr2:113825200-113828200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:113825200-113828200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:113825400-113833000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:113825800-113832800	Enhancers	NHEK	skin
6	chr2:113825800-113839600	Enhancers	HMEC	breast
7	chr2:113826000-113827200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:113826200-113833200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:113826600-113828800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr2:113827000-113827400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:113827000-113828600	Enhancers	Placenta	Placenta

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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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