Variant report

Variant	rs4762968
Chromosome Location	chr12:20679926-20679927
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11613220	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12832108	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4762764	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4762973	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6487099	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7134968	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7295612	0.86[ASN][1000 genomes]
rs7303852	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7484304	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7487227	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7489188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7953905	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7977362	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr12:20667600-20680200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:20673800-20680800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:20673800-20694200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:20673800-20704200	Weak transcription	Fetal Intestine Large	intestine
5	chr12:20674000-20680600	Weak transcription	Fetal Lung	lung
6	chr12:20674000-20681000	Weak transcription	Ovary	ovary
7	chr12:20675000-20680400	Weak transcription	Fetal Stomach	stomach
8	chr12:20675000-20680400	Weak transcription	Left Ventricle	heart
9	chr12:20675200-20680200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:20675200-20680200	Weak transcription	Fetal Intestine Small	intestine
11	chr12:20675600-20680400	Enhancers	Osteobl	bone
12	chr12:20677000-20680200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:20677200-20680600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:20677200-20681200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:20677400-20680000	Weak transcription	NHDF-Ad	bronchial
16	chr12:20677400-20680200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:20677400-20680400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:20677400-20681000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:20677400-20681400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:20677600-20680200	Weak transcription	Hela-S3	cervix
21	chr12:20678000-20681000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:20678200-20680200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:20678400-20680400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:20679000-20680000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr12:20679000-20680000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:20679400-20681600	Enhancers	Rectal Smooth Muscle	rectum
27	chr12:20679600-20680200	Enhancers	Brain Anterior Caudate	brain
28	chr12:20679600-20680200	Enhancers	Brain Hippocampus Middle	brain
29	chr12:20679800-20680000	Enhancers	Stomach Smooth Muscle	stomach
30	chr12:20679800-20680400	Active TSS	Colon Smooth Muscle	Colon
31	chr12:20679800-20680800	Active TSS	A549	lung
32	chr12:20679800-20681600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links