Variant report

Variant	rs17050012
Chromosome Location	chr4:120053570-120053571
allele	A/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	POLR2A	chr4:120053242-120053830	U87	brain:	n/a	n/a

Variant related genes	Relation type
MYOZ2	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10002207	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10007353	0.89[EUR][1000 genomes]
rs10008206	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10011628	0.89[EUR][1000 genomes]
rs10011815	0.89[EUR][1000 genomes]
rs10017227	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10020251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10027388	0.89[EUR][1000 genomes]
rs10027543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10027649	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10027729	0.89[EUR][1000 genomes]
rs10033458	0.89[EUR][1000 genomes]
rs11934185	0.89[EUR][1000 genomes]
rs11934309	0.89[EUR][1000 genomes]
rs11935277	0.89[EUR][1000 genomes]
rs11935490	0.89[EUR][1000 genomes]
rs11936641	0.89[EUR][1000 genomes]
rs11943221	0.89[EUR][1000 genomes]
rs13434885	0.89[EUR][1000 genomes]
rs13435642	0.89[EUR][1000 genomes]
rs17050027	0.89[EUR][1000 genomes]
rs17050032	0.89[EUR][1000 genomes]
rs17050065	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17839092	0.89[EUR][1000 genomes]
rs2389726	0.89[EUR][1000 genomes]
rs28404363	0.89[EUR][1000 genomes]
rs28429127	0.89[EUR][1000 genomes]
rs28477374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28480491	0.89[EUR][1000 genomes]
rs28507886	0.89[EUR][1000 genomes]
rs28526325	0.89[EUR][1000 genomes]
rs28682357	0.89[EUR][1000 genomes]
rs28687038	0.89[EUR][1000 genomes]
rs28691747	0.89[EUR][1000 genomes]
rs28734069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4370120	0.89[EUR][1000 genomes]
rs4608795	0.89[EUR][1000 genomes]
rs56231990	0.87[EUR][1000 genomes]
rs72671701	0.83[AMR][1000 genomes]
rs72673713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72673721	0.89[EUR][1000 genomes]
rs72673726	0.89[EUR][1000 genomes]
rs72673752	0.87[EUR][1000 genomes]
rs72673777	1.00[EUR][1000 genomes]
rs72673794	1.00[EUR][1000 genomes]
rs72676009	1.00[EUR][1000 genomes]
rs72676016	0.87[EUR][1000 genomes]
rs7666114	0.89[EUR][1000 genomes]
rs7666154	0.89[EUR][1000 genomes]
rs7666292	0.89[EUR][1000 genomes]
rs9307467	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1007214	chr4:120007913-120112460	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1008115	chr4:120007913-120143849	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv1003827	chr4:120008227-120112460	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv522386	chr4:120009147-120115379	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
9	nsv1007619	chr4:120014898-120112460	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120045200-120059200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:120045800-120056200	Weak transcription	HSMMtube	muscle
3	chr4:120051400-120054000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:120051400-120054000	Enhancers	Osteobl	bone
5	chr4:120051600-120053600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:120051600-120054000	Enhancers	NHDF-Ad	bronchial
7	chr4:120051800-120053800	Enhancers	NHLF	lung
8	chr4:120051800-120054000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:120052000-120057200	Weak transcription	Psoas Muscle	Psoas
10	chr4:120052200-120056400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:120052400-120056400	Weak transcription	HUVEC	blood vessel
12	chr4:120052600-120053800	Enhancers	Aorta	Aorta
13	chr4:120052600-120054000	Enhancers	Fetal Heart	heart
14	chr4:120052600-120055800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:120052800-120057000	Weak transcription	Right Ventricle	heart
16	chr4:120052800-120058800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:120052800-120060000	Weak transcription	Fetal Intestine Large	intestine
18	chr4:120053000-120056400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:120053200-120055800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:120053200-120056200	Weak transcription	Fetal Muscle Leg	muscle
21	chr4:120053200-120056800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:120053200-120056800	Weak transcription	Pancreas	Pancrea
23	chr4:120053200-120057000	Weak transcription	Left Ventricle	heart
24	chr4:120053200-120057000	Weak transcription	Right Atrium	heart
25	chr4:120053400-120053600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:120053400-120053600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr4:120053400-120054000	Enhancers	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links