Variant report

Variant	rs57930770
Chromosome Location	chr2:182658091-182658092
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10183527	0.88[ASN][1000 genomes]
rs10183937	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10190772	0.84[ASN][1000 genomes]
rs10803953	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10930979	0.82[ASN][1000 genomes]
rs11884097	0.88[ASN][1000 genomes]
rs11886921	0.87[ASN][1000 genomes]
rs11895376	0.84[ASN][1000 genomes]
rs11901603	0.88[ASN][1000 genomes]
rs11902910	0.88[ASN][1000 genomes]
rs13414894	0.88[ASN][1000 genomes]
rs13415272	0.88[ASN][1000 genomes]
rs13424337	0.88[ASN][1000 genomes]
rs13428496	0.88[ASN][1000 genomes]
rs1343793	0.88[ASN][1000 genomes]
rs16867502	0.90[ASN][1000 genomes]
rs16867504	0.90[ASN][1000 genomes]
rs2037799	0.87[ASN][1000 genomes]
rs2368225	0.87[ASN][1000 genomes]
rs2582999	0.81[ASN][1000 genomes]
rs4018749	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4508561	0.92[ASN][1000 genomes]
rs60384758	0.88[ASN][1000 genomes]
rs6740944	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754481	0.88[ASN][1000 genomes]
rs6758834	0.82[ASN][1000 genomes]
rs7567220	0.88[ASN][1000 genomes]
rs7567371	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595805	0.85[ASN][1000 genomes]
rs9288073	0.88[ASN][1000 genomes]
rs9288074	0.88[ASN][1000 genomes]
rs937296	0.94[ASN][1000 genomes]
rs951542	0.88[ASN][1000 genomes]
rs951543	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182656400-182658600	Weak transcription	Thymus	Thymus
2	chr2:182657200-182658200	Weak transcription	HMEC	breast
3	chr2:182657200-182661400	Weak transcription	Osteobl	bone
4	chr2:182657200-182669800	Weak transcription	NHDF-Ad	bronchial
5	chr2:182657400-182658800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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