Variant report

Variant	rs10431216
Chromosome Location	chr12:26280714-26280715
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr12:26280591-26280791	PANC-1	pancreas:	n/a	chr12:26280678-26280694 chr12:26280682-26280691 chr12:26280678-26280694 chr12:26280679-26280693
2	CEBPB	chr12:26280679-26281435	Hela-S3	cervix:	n/a	chr12:26281190-26281201

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26279728..26281468-chr12:26283213..26285101,2	MCF-7	breast:

Variant related genes	Relation type
BHLHE41	TF binding region
ENSG00000256894	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10842679	0.83[EUR][1000 genomes]
rs1383112	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs1383113	0.89[CEU][hapmap];0.85[JPT][hapmap];0.80[EUR][1000 genomes]
rs3809139	0.81[ASN][1000 genomes]
rs3809140	0.82[CEU][hapmap]
rs55678992	0.81[ASN][1000 genomes]
rs61915713	0.81[ASN][1000 genomes]
rs61915714	0.81[ASN][1000 genomes]
rs61915715	0.81[ASN][1000 genomes]
rs61915716	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61915717	0.90[EUR][1000 genomes];0.81[ASN][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	nsv898932	chr12:26262137-26283482	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv898933	chr12:26262137-26285006	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26279800-26280800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:26279800-26281000	Weak transcription	HSMMtube	muscle
3	chr12:26279800-26281200	Enhancers	Adipose Nuclei	Adipose
4	chr12:26279800-26281600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:26280000-26280800	Enhancers	Duodenum Mucosa	Duodenum
6	chr12:26280000-26280800	Bivalent Enhancer	Fetal Intestine Large	intestine
7	chr12:26280000-26281200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:26280000-26281200	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:26280000-26281200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:26280000-26281200	Bivalent Enhancer	Fetal Intestine Small	intestine
11	chr12:26280000-26281200	Enhancers	Hela-S3	cervix
12	chr12:26280000-26281400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:26280000-26281400	Enhancers	NHEK	skin
14	chr12:26280000-26281600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:26280000-26281600	Enhancers	HMEC	breast
16	chr12:26280000-26281800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:26280000-26282800	Enhancers	NHDF-Ad	bronchial
18	chr12:26280000-26287800	Weak transcription	Aorta	Aorta
19	chr12:26280200-26280800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
20	chr12:26280200-26280800	Weak transcription	NHLF	lung
21	chr12:26280200-26281200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr12:26280400-26280800	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr12:26280400-26286800	Weak transcription	Brain Substantia Nigra	brain
24	chr12:26280600-26280800	Enhancers	Brain Angular Gyrus	brain
25	chr12:26280600-26280800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr12:26280600-26280800	Flanking Bivalent TSS/Enh	Dnd41	blood
27	chr12:26280600-26281000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr12:26280600-26287800	Weak transcription	Brain Hippocampus Middle	brain
29	chr12:26280600-26290200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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