Variant report

Variant	rs11836448
Chromosome Location	chr12:66440730-66440731
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11830969	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11837702	0.90[AFR][1000 genomes]
rs61711766	0.85[AFR][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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv899213	chr12:66389968-66500036	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv832446	chr12:66393863-66501484	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66436600-66442400	Weak transcription	Ovary	ovary
2	chr12:66437600-66441600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:66437600-66443600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:66438000-66443200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:66438800-66440800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:66438800-66440800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:66439000-66440800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:66439000-66440800	Weak transcription	HMEC	breast
9	chr12:66439000-66441000	Weak transcription	NH-A	brain
10	chr12:66439000-66441200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:66439000-66441400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:66439000-66446200	Enhancers	HepG2	liver
13	chr12:66439200-66440800	Weak transcription	NHEK	skin
14	chr12:66439200-66442600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:66440000-66442600	Enhancers	NHDF-Ad	bronchial
16	chr12:66440000-66443000	Enhancers	NHLF	lung
17	chr12:66440000-66443600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:66440400-66442800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:66440600-66440800	Enhancers	GM12878-XiMat	blood
20	chr12:66440600-66442600	Enhancers	Osteobl	bone

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