Variant report

Variant	rs4256954
Chromosome Location	chr11:18167630-18167631
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1001139	0.92[ASN][1000 genomes]
rs10832889	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832890	1.00[CHB][hapmap];0.87[CHD][hapmap];0.86[ASN][1000 genomes]
rs11024502	0.91[CHB][hapmap]
rs11024503	0.83[ASN][1000 genomes]
rs1350098	0.91[ASN][1000 genomes]
rs1378605	0.93[ASN][1000 genomes]
rs1378606	0.93[ASN][1000 genomes]
rs1378607	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.92[ASN][1000 genomes]
rs1378608	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.92[ASN][1000 genomes]
rs1378611	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs1378612	0.91[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.91[ASN][1000 genomes]
rs1455787	0.92[ASN][1000 genomes]
rs1455788	0.92[ASN][1000 genomes]
rs1531104	0.83[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap]
rs1531105	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs1968730	0.83[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap]
rs1968732	0.83[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap]
rs2014694	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs2078066	0.83[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap]
rs2124375	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs2124376	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs2124377	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs2198706	0.91[JPT][hapmap]
rs2246304	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs2246305	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs2246388	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs2253938	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap]
rs2403247	0.91[CHB][hapmap]
rs2403248	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs2445146	0.91[JPT][hapmap]
rs2445148	0.82[EUR][1000 genomes]
rs2445149	0.81[CHD][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap]
rs2445164	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs2445165	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2445180	0.91[JPT][hapmap]
rs2445182	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs2445183	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs2445196	0.91[ASN][1000 genomes]
rs2445197	0.90[ASN][1000 genomes]
rs2445198	0.90[ASN][1000 genomes]
rs2445199	0.90[ASN][1000 genomes]
rs2445203	0.83[ASN][1000 genomes]
rs2445204	0.83[ASN][1000 genomes]
rs2445205	0.83[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap];0.83[ASN][1000 genomes]
rs2445206	0.83[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap];0.83[ASN][1000 genomes]
rs2445207	0.83[ASN][1000 genomes]
rs2468772	0.86[CHD][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap]
rs2468774	0.91[JPT][hapmap]
rs2468820	0.83[ASN][1000 genomes]
rs2468824	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2468825	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2468830	0.93[ASN][1000 genomes]
rs2468831	0.93[ASN][1000 genomes]
rs2860276	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs2860278	0.83[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap]
rs34114573	0.83[ASN][1000 genomes]
rs4300374	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73434204	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	esv11709	chr11:18138662-18200717	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3509521	chr11:18159957-18188401	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3509522	chr11:18159957-18188401	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3367251	chr11:18159957-18196082	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv518373	chr11:18164687-18195348	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv975090	chr11:18164912-18189697	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv16635	chr11:18165268-18194893	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv2762898	chr11:18166780-18198880	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18166800-18168400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:18167400-18167800	Enhancers	Primary T cells fromperipheralblood	blood

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