Variant report

Variant	rs11123159
Chromosome Location	chr2:113834030-113834031
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	chr2:113827867..113831764-chr2:113833015..113836168,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136697	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10185781	0.80[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10207930	0.89[JPT][hapmap]
rs11677407	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11681884	0.80[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11683132	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11684277	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11684289	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11684371	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11684719	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs11686467	0.94[ASN][1000 genomes]
rs11686511	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11687782	0.89[JPT][hapmap]
rs11688270	0.91[ASN][1000 genomes]
rs11690459	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11883847	0.87[CEU][hapmap]
rs11886743	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11886754	0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11887249	0.83[EUR][1000 genomes]
rs11891198	0.80[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11893386	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11897481	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11897709	0.83[EUR][1000 genomes]
rs11898158	0.86[EUR][1000 genomes]
rs11899198	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13390577	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13406085	0.83[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13410552	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13432148	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1542176	0.89[JPT][hapmap]
rs1623119	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17042721	0.87[CEU][hapmap]
rs17042750	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs17042810	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17042853	0.80[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17042888	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17042905	0.89[CEU][hapmap];0.83[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs17042917	0.88[CEU][hapmap];0.83[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs17486819	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1992761	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs1992762	0.83[EUR][1000 genomes]
rs1992763	0.82[EUR][1000 genomes]
rs2029582	0.89[JPT][hapmap]
rs2121327	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2121329	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28928270	0.86[EUR][1000 genomes]
rs34466405	0.83[EUR][1000 genomes]
rs34517213	0.82[EUR][1000 genomes]
rs3811053	1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3811054	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55888413	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56060225	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56948778	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58036696	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58153729	0.86[ASN][1000 genomes]
rs58187820	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58922543	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59032902	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60341065	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60562399	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60924024	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60981695	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61366770	0.86[ASN][1000 genomes]
rs61546073	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6738377	0.89[JPT][hapmap]
rs72946783	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72946788	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72950839	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72950861	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72950867	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72950883	0.86[ASN][1000 genomes]
rs73955148	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73955151	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7561080	0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][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	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
3	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv2881	chr2:113800805-113846597	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113825800-113839600	Enhancers	HMEC	breast
2	chr2:113832400-113834600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:113832400-113835600	Enhancers	Fetal Intestine Small	intestine
4	chr2:113832600-113834600	Weak transcription	Gastric	stomach
5	chr2:113832600-113835000	Enhancers	Fetal Intestine Large	intestine
6	chr2:113832600-113835800	Weak transcription	Lung	lung
7	chr2:113832800-113835800	Weak transcription	Esophagus	oesophagus
8	chr2:113833000-113834600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:113833200-113834600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:113833800-113834600	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:113834000-113835600	Enhancers	NHEK	skin
12	chr2:113834000-113838200	Enhancers	Stomach Mucosa	stomach

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