Variant report

Variant	rs11693640
Chromosome Location	chr2:213046179-213046180
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:213040589..213042469-chr2:213044836..213047782,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10048673	0.81[ASW][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap]
rs10048796	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs10166172	0.81[ASW][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap]
rs10184205	0.87[CHD][hapmap]
rs10196229	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10206443	1.00[JPT][hapmap]
rs10207020	0.86[CHD][hapmap]
rs10932424	0.83[CHD][hapmap]
rs10932428	0.80[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs11677623	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs11896691	0.86[CHD][hapmap]
rs12052282	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12622947	0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs13391312	0.86[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs13407289	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs13416059	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs13427258	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs13432680	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1357138	0.90[CHD][hapmap]
rs1357139	0.86[CHD][hapmap];0.90[JPT][hapmap]
rs1402769	0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs1467273	0.86[CHD][hapmap]
rs1521639	0.86[CHD][hapmap]
rs1521646	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1521649	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1521659	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17344880	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1948875	0.83[CHD][hapmap]
rs2049180	0.86[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs2090862	0.86[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs2103001	0.86[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs4145960	0.86[CHD][hapmap]
rs4233985	0.90[CHD][hapmap]
rs4580336	0.86[CHD][hapmap]
rs6718075	0.93[CHD][hapmap];1.00[JPT][hapmap]
rs6755027	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.89[TSI][hapmap];0.83[YRI][hapmap]
rs7608095	0.83[CHD][hapmap]
rs9288446	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs9288447	1.00[JPT][hapmap]
rs9288449	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs939224	0.90[CHD][hapmap]
rs9653257	0.86[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap]
rs9973372	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs9973520	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs9973523	0.86[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011572	chr2:212840066-213152279	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv875805	chr2:212891401-213164837	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv875806	chr2:212997024-213211067	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213046000-213046400	Weak transcription	Fetal Heart	heart

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