Variant report

Variant	rs11677903
Chromosome Location	chr2:113714944-113714945
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	chr2:113705434..113708431-chr2:113713568..113715574,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11674397	0.83[AMR][1000 genomes]
rs11676969	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11680584	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11680975	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11681359	0.83[AMR][1000 genomes]
rs11683669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11685418	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11689621	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11692391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11692429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11694258	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11694657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11694863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11696002	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13415097	1.00[ASN][1000 genomes]
rs17042591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17607787	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17659543	1.00[ASN][1000 genomes]
rs28938790	1.00[JPT][hapmap]
rs28947168	0.91[ASN][1000 genomes]
rs28947170	0.91[ASN][1000 genomes]
rs28947203	0.91[ASN][1000 genomes]
rs28954077	0.91[ASN][1000 genomes]
rs28993969	0.91[ASN][1000 genomes]
rs35229022	0.91[ASN][1000 genomes]
rs3768769	0.91[ASN][1000 genomes]
rs3923566	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074747	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4257410	0.83[EUR][1000 genomes]
rs4334503	0.83[AMR][1000 genomes]
rs4458215	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4592853	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55953396	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56198490	0.91[ASN][1000 genomes]
rs59995729	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7563305	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7581834	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7597623	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7600475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7602576	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11677903	EDAR	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113711000-113715000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:113712600-113715000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:113712600-113715200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:113712600-113715400	Weak transcription	HMEC	breast
5	chr2:113712600-113716200	Weak transcription	NHEK	skin
6	chr2:113714800-113716600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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