Variant report

Variant	rs4513543
Chromosome Location	chr4:151062956-151062957
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1160433	0.84[EUR][1000 genomes]
rs11737192	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3922818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4346630	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55803223	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56141146	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59423365	0.84[AFR][1000 genomes]
rs60467236	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72965581	0.84[AFR][1000 genomes]
rs7340876	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7674585	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026797	chr4:150246932-151217137	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151038800-151070000	Weak transcription	Ovary	ovary
2	chr4:151045200-151099000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:151049200-151074000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:151057800-151070600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:151060400-151063400	Enhancers	HSMM	muscle
6	chr4:151061000-151063800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr4:151061400-151063200	Enhancers	NHLF	lung
8	chr4:151061800-151069800	Weak transcription	Left Ventricle	heart
9	chr4:151061800-151071800	Weak transcription	Brain Anterior Caudate	brain
10	chr4:151062000-151063000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:151062000-151063000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:151062000-151063000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:151062200-151063000	Active TSS	A549	lung
14	chr4:151062200-151063000	Flanking Active TSS	Hela-S3	cervix
15	chr4:151062200-151063000	Flanking Active TSS	NHEK	skin
16	chr4:151062200-151064000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:151062400-151063000	Enhancers	Stomach Smooth Muscle	stomach
18	chr4:151062400-151063000	Enhancers	HSMMtube	muscle
19	chr4:151062400-151063000	Flanking Active TSS	NHDF-Ad	bronchial
20	chr4:151062600-151063000	Enhancers	NH-A	brain
21	chr4:151062600-151063200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:151062600-151063200	Enhancers	Brain Germinal Matrix	brain
23	chr4:151062600-151063400	Enhancers	Fetal Heart	heart
24	chr4:151062800-151063000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:151062800-151063000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:151062800-151063000	Enhancers	Osteobl	bone
27	chr4:151062800-151063200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:151062800-151063400	Enhancers	HUVEC	blood vessel
29	chr4:151062800-151063600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:151062800-151066800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:151062800-151067000	Weak transcription	HMEC	breast
32	chr4:151062800-151071800	Weak transcription	Colon Smooth Muscle	Colon
33	chr4:151062800-151072000	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links