Variant report

Variant	rs1401492
Chromosome Location	chr3:53680124-53680125
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs3774492	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3774508	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3774519	1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3774522	0.85[ASN][1000 genomes]
rs3774529	0.90[CHB][hapmap];0.83[GIH][hapmap];0.91[EUR][1000 genomes]
rs3774538	0.91[EUR][1000 genomes]
rs6784608	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6792713	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6802110	1.00[GIH][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6802129	1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73840164	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9871578	0.94[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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' 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	24 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Insulin resistance/response	21901158	GWAS catalog

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53652800-53684000	Weak transcription	Right Atrium	heart
2	chr3:53666400-53681400	Weak transcription	Fetal Lung	lung
3	chr3:53667600-53680600	Weak transcription	Fetal Intestine Large	intestine
4	chr3:53676800-53688600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:53677600-53700000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr3:53678000-53681400	Weak transcription	Fetal Intestine Small	intestine
7	chr3:53678000-53687000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr3:53679200-53684400	Weak transcription	Fetal Brain Female	brain
9	chr3:53679400-53680800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:53679600-53680400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:53679800-53681600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr3:53679800-53681600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr3:53680000-53680800	Enhancers	Psoas Muscle	Psoas

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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