Variant report

Variant	rs11061918
Chromosome Location	chr12:1795687-1795688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1794172..1796468-chr12:1859826..1862181,2	K562	blood:
2	chr12:1795628..1797251-chr12:1799759..1801605,2	K562	blood:
3	chr12:1789009..1790648-chr12:1794138..1796039,2	K562	blood:
4	chr12:1790456..1792262-chr12:1794047..1796171,2	K562	blood:
5	chr12:1793748..1796925-chr12:1797509..1802549,6	MCF-7	breast:
6	chr12:1774139..1776041-chr12:1794972..1797098,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006831	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1029629	0.87[CHD][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs10848551	0.83[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs10848552	0.83[ASN][1000 genomes]
rs10848553	0.82[ASN][1000 genomes]
rs10848566	0.92[ASN][1000 genomes]
rs11061920	0.82[ASN][1000 genomes]
rs11061921	0.83[ASN][1000 genomes]
rs11061924	0.82[ASN][1000 genomes]
rs11061925	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs11061927	0.81[JPT][hapmap]
rs11061935	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.93[MKK][hapmap];0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11061946	1.00[CHB][hapmap];0.94[CHD][hapmap];0.84[JPT][hapmap];0.92[MEX][hapmap];0.87[ASN][1000 genomes]
rs11061952	1.00[CHB][hapmap];0.94[CHD][hapmap];0.84[JPT][hapmap];0.92[MEX][hapmap];0.87[ASN][1000 genomes]
rs11061956	0.92[ASN][1000 genomes]
rs11061962	0.81[JPT][hapmap]
rs11061967	1.00[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs11061973	1.00[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs1136213	0.80[ASN][1000 genomes]
rs11833054	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12230440	1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs12579507	0.97[ASN][1000 genomes]
rs12581815	0.92[ASN][1000 genomes]
rs12810020	0.81[JPT][hapmap]
rs12821401	1.00[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs16928704	0.83[ASN][1000 genomes]
rs2058033	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs2058035	0.87[CHD][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs4766413	0.87[CHD][hapmap];0.81[JPT][hapmap]
rs6489320	0.83[ASN][1000 genomes]
rs7132033	0.87[CHD][hapmap];0.81[JPT][hapmap]
rs71454839	0.93[ASN][1000 genomes]
rs7297509	0.81[JPT][hapmap]
rs73040715	0.88[ASN][1000 genomes]
rs73040736	0.87[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	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv832305	chr12:1769852-1936054	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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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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