Variant report

Variant	rs879711
Chromosome Location	chr2:113716254-113716255
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113506982..113507826-chr2:113716083..113717303,4	MCF-7	breast:
2	chr2:113506786..113507995-chr2:113716136..113717026,4	K562	blood:
3	chr2:113506583..113509292-chr2:113716187..113718342,2	K562	blood:
4	chr2:113504578..113507107-chr2:113715041..113717876,2	MCF-7	breast:
5	chr2:113716174..113716685-chr2:113789552..113790103,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10178396	0.96[CEU][hapmap];0.87[CHB][hapmap];0.93[GIH][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10188477	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10188765	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10199311	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs10206205	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10221977	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10864907	0.89[CEU][hapmap];0.92[MEX][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10864908	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11123153	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11123154	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11674086	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11676013	0.86[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap]
rs11683383	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11690399	0.89[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11695077	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11897907	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12468164	0.84[ASN][1000 genomes]
rs12711745	0.83[ASN][1000 genomes]
rs13029531	0.89[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13029703	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1562305	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1867827	0.86[ASN][1000 genomes]
rs1867828	0.86[ASN][1000 genomes]
rs2068777	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs2305151	0.88[ASN][1000 genomes]
rs2723163	0.83[CHB][hapmap];0.81[GIH][hapmap];0.81[ASN][1000 genomes]
rs4254516	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4538207	0.83[ASN][1000 genomes]
rs58593758	0.88[ASN][1000 genomes]
rs6747618	0.96[CEU][hapmap];0.87[CHB][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7557537	0.83[ASN][1000 genomes]
rs7559466	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7578034	0.94[ASN][1000 genomes]
rs7580877	0.92[ASN][1000 genomes]
rs879710	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs879711	ACOXL	cis	parietal	SCAN
rs879711	DPP10	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113714800-113716600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:113715800-113716400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:113715800-113716600	Enhancers	Stomach Mucosa	stomach
4	chr2:113715800-113720600	Weak transcription	Fetal Intestine Small	intestine
5	chr2:113716000-113716600	Enhancers	HMEC	breast
6	chr2:113716200-113716400	Enhancers	NHEK	skin
7	chr2:113716200-113716400	Bivalent Enhancer	Osteobl	bone
8	chr2:113716200-113716600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:113716200-113716600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:113716200-113716600	Enhancers	NH-A	brain
11	chr2:113716200-113716800	Enhancers	Liver	Liver
12	chr2:113716200-113716800	Enhancers	K562	blood
13	chr2:113716200-113717000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:113716200-113717200	Enhancers	HUES6 Cell Line	embryonic stem cell

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