Variant report

Variant	rs11112269
Chromosome Location	chr12:105368694-105368695
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105367392..105369569-chr12:105378392..105380770,2	MCF-7	breast:
2	chr12:105368507..105370397-chr12:105372355..105374469,3	MCF-7	breast:
3	chr12:105350976..105355078-chr12:105366279..105369986,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151131	Chromatin interaction
ENSG00000136052	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10861300	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11112268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230563	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4130161	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[GIH][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.81[TSI][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4964309	0.92[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs4964318	0.82[JPT][hapmap]
rs6539173	0.97[ASN][1000 genomes]
rs6539174	0.93[ASN][1000 genomes]
rs6539178	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6539179	0.91[ASN][1000 genomes]
rs6539180	0.91[ASN][1000 genomes]
rs7307234	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs73383489	0.85[AFR][1000 genomes]
rs7975396	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
4	nsv869	chr12:105363425-105394904	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	nsv983361	chr12:105367672-105376203	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3436359	chr12:105367822-105372020	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3498330	chr12:105368622-105373520	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv511501	chr12:105368694-105374137	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105368000-105368800	Flanking Active TSS	NHEK	skin
2	chr12:105368000-105369000	Enhancers	Stomach Mucosa	stomach
3	chr12:105368000-105370800	Enhancers	HMEC	breast
4	chr12:105368000-105371800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr12:105368000-105371800	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:105368200-105368800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:105368200-105369000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:105368200-105369000	Enhancers	Adipose Nuclei	Adipose
9	chr12:105368200-105369000	Flanking Active TSS	GM12878-XiMat	blood
10	chr12:105368200-105369000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr12:105368200-105370000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:105368200-105370200	Enhancers	Hela-S3	cervix
13	chr12:105368200-105372000	Enhancers	Primary B cells from cord blood	blood
14	chr12:105368400-105369800	Enhancers	Osteobl	bone
15	chr12:105368400-105370200	Enhancers	NHDF-Ad	bronchial
16	chr12:105368400-105370400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:105368400-105370800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:105368600-105368800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:105368600-105368800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:105368600-105368800	Enhancers	NHLF	lung
21	chr12:105368600-105370000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr12:105368600-105370200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:105368600-105370200	Enhancers	HSMM	muscle
24	chr12:105368600-105370400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:105368600-105370600	Weak transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links