Variant report

Variant	rs1317913
Chromosome Location	chr2:113716177-113716178
allele	C/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	chr2:113504578..113507107-chr2:113715041..113717876,2	MCF-7	breast:
4	chr2:113716174..113716685-chr2:113789552..113790103,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10171072	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10184412	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10864907	0.81[CHB][hapmap]
rs11123151	0.81[AMR][1000 genomes]
rs11676013	0.91[CEU][hapmap]
rs11683399	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11690185	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11690539	0.81[AMR][1000 genomes]
rs11690879	0.81[AMR][1000 genomes]
rs11695110	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11696039	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11893071	0.87[AMR][1000 genomes]
rs12105482	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12464758	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12465526	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12466604	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12466653	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12466697	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12467810	0.87[ASN][1000 genomes]
rs12467847	0.87[ASN][1000 genomes]
rs12470439	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12471839	0.84[AMR][1000 genomes]
rs12472089	0.82[AMR][1000 genomes]
rs12614316	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12614988	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12616801	0.91[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12617864	0.87[AMR][1000 genomes]
rs12618418	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12623837	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12993351	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12995439	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13026837	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13033104	0.92[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13418326	0.92[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2305152	0.87[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34027384	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35880601	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4077216	0.81[AMR][1000 genomes]
rs66591921	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6705432	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6716380	0.87[AMR][1000 genomes]
rs6722962	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6723197	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6723582	0.84[AMR][1000 genomes]
rs6733001	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6733003	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs67995749	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs725139	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs725140	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72825577	0.82[AMR][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

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113712600-113716200	Weak transcription	NHEK	skin
2	chr2:113714800-113716600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:113715000-113716200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:113715800-113716400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:113715800-113716600	Enhancers	Stomach Mucosa	stomach
6	chr2:113715800-113720600	Weak transcription	Fetal Intestine Small	intestine
7	chr2:113716000-113716600	Enhancers	HMEC	breast

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