Variant report

Variant	rs11112253
Chromosome Location	chr12:105347938-105347939
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	chr12:105343851..105348812-chr12:105350003..105354386,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136052	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10746008	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10778355	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10778358	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10861294	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10861296	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11610388	0.88[ASN][1000 genomes]
rs2248986	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2249454	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2264892	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2468337	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4334113	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4388976	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4393404	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4964310	0.82[ASN][1000 genomes]
rs6539171	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7135015	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7138686	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7309240	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73193606	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967503	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7968763	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9668618	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]

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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105338200-105349000	Weak transcription	Pancreas	Pancrea
2	chr12:105338200-105351000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:105342600-105350600	Weak transcription	Adipose Nuclei	Adipose
4	chr12:105346000-105348200	Flanking Active TSS	A549	lung
5	chr12:105346400-105348400	Enhancers	Stomach Mucosa	stomach
6	chr12:105346800-105351400	Weak transcription	Small Intestine	intestine
7	chr12:105347200-105350600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:105347200-105350600	Enhancers	Liver	Liver
9	chr12:105347400-105350600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:105347400-105350600	Weak transcription	HepG2	liver
11	chr12:105347400-105350800	Weak transcription	NHEK	skin
12	chr12:105347400-105351400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:105347600-105348200	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr12:105347600-105348200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr12:105347600-105349000	Weak transcription	Aorta	Aorta
16	chr12:105347600-105350000	Weak transcription	GM12878-XiMat	blood
17	chr12:105347800-105348400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr12:105347800-105350800	Weak transcription	Hela-S3	cervix
19	chr12:105347800-105351000	Weak transcription	HUVEC	blood vessel

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