Variant report

Variant	rs7976860
Chromosome Location	chr12:50781006-50781007
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11836763	1.00[EUR][1000 genomes]
rs11838333	1.00[EUR][1000 genomes]
rs17124532	0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60760540	1.00[EUR][1000 genomes]
rs726044	1.00[EUR][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	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
2	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1035796	chr12:50634342-50784312	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv1053667	chr12:50679039-50801752	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv1041563	chr12:50705715-50861699	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv899076	chr12:50770291-50869589	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50770200-50783400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:50774200-50781200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:50775000-50781400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:50780800-50781200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:50780800-50781400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:50780800-50781600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr12:50780800-50781600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr12:50780800-50781800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr12:50780800-50782000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:50780800-50782000	Enhancers	Fetal Stomach	stomach
11	chr12:50780800-50782000	Enhancers	Hela-S3	cervix
12	chr12:50780800-50782800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:50780800-50782800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:50780800-50786200	Enhancers	Placenta	Placenta
15	chr12:50781000-50781200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:50781000-50781200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:50781000-50781200	Flanking Active TSS	Fetal Lung	lung
18	chr12:50781000-50781200	Enhancers	HepG2	liver
19	chr12:50781000-50781200	Flanking Active TSS	NHDF-Ad	bronchial
20	chr12:50781000-50781400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr12:50781000-50781400	Enhancers	Brain Germinal Matrix	brain
22	chr12:50781000-50781400	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr12:50781000-50781600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr12:50781000-50781600	Flanking Active TSS	Osteobl	bone
25	chr12:50781000-50781800	Enhancers	Stomach Mucosa	stomach
26	chr12:50781000-50782000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr12:50781000-50782000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:50781000-50782000	Enhancers	Fetal Intestine Large	intestine
29	chr12:50781000-50782400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr12:50781000-50782800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr12:50781000-50783000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr12:50781000-50783200	Enhancers	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links