Variant report

Variant	rs11691685
Chromosome Location	chr2:145481827-145481828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11674685	0.88[EUR][1000 genomes]
rs11675927	0.92[CEU][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs11681525	0.88[EUR][1000 genomes]
rs11685274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11687464	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11689322	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs11689575	0.92[CEU][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs1346344	1.00[YRI][hapmap]
rs16823886	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs4384720	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs66537831	0.82[EUR][1000 genomes]
rs67365209	0.88[EUR][1000 genomes]
rs67382063	0.91[EUR][1000 genomes]
rs6752912	0.96[EUR][1000 genomes]
rs6756405	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67963154	0.93[EUR][1000 genomes]
rs68017203	0.82[EUR][1000 genomes]
rs72850698	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72852115	0.85[EUR][1000 genomes]
rs72852118	0.85[EUR][1000 genomes]
rs72852120	0.85[EUR][1000 genomes]
rs72852122	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72852128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72852130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72852133	0.82[EUR][1000 genomes]
rs72852135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72852137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72852150	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72852164	0.88[EUR][1000 genomes]
rs72852199	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72853207	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72853210	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72853221	0.88[EUR][1000 genomes]
rs72853226	0.88[EUR][1000 genomes]
rs72853247	0.88[EUR][1000 genomes]
rs72853253	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72853263	0.88[EUR][1000 genomes]
rs7595770	1.00[CEU][hapmap];0.84[EUR][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	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv529501	chr2:145257682-145485605	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv834397	chr2:145439528-145608628	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv15668	chr2:145480956-145485337	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145463200-145495600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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