Variant report

Variant	rs4976539
Chromosome Location	chr5:167637274-167637275
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12659719	0.84[CHD][hapmap];0.82[ASN][1000 genomes]
rs12659776	0.83[ASN][1000 genomes]
rs1363560	0.86[CEU][hapmap];0.83[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1874460	0.95[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34187866	0.94[ASN][1000 genomes]
rs34571245	0.80[EUR][1000 genomes]
rs34608084	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3797719	1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.83[MKK][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58151545	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61098277	0.81[EUR][1000 genomes]
rs7700672	0.85[CEU][hapmap];0.91[GIH][hapmap]
rs7708354	0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7714057	0.82[YRI][hapmap]
rs9918152	0.82[ASW][hapmap];0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[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	nsv600255	chr5:167622534-167651603	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv600256	chr5:167622914-167643545	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167615800-167646600	Weak transcription	Fetal Heart	heart
2	chr5:167619200-167646600	Weak transcription	NHDF-Ad	bronchial
3	chr5:167621400-167657600	Weak transcription	Fetal Brain Female	brain
4	chr5:167621800-167646400	Weak transcription	Brain Germinal Matrix	brain
5	chr5:167624600-167646600	Weak transcription	Liver	Liver
6	chr5:167630200-167643000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:167631200-167643400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:167631800-167640800	Weak transcription	Right Ventricle	heart
9	chr5:167634400-167638400	Weak transcription	Left Ventricle	heart
10	chr5:167634600-167643200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:167634800-167646400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:167635200-167645200	Weak transcription	HMEC	breast
13	chr5:167635200-167645400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:167635200-167646000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:167636200-167637400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:167636200-167637800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:167636200-167637800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:167636200-167638600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:167636200-167638600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:167636400-167637400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:167636400-167637400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:167636400-167637400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:167636400-167646600	Strong transcription	NHEK	skin
24	chr5:167636800-167637400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:167636800-167637400	Enhancers	Aorta	Aorta
26	chr5:167636800-167642200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:167637000-167639000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:167637000-167642000	Weak transcription	HSMM	muscle
29	chr5:167637000-167645200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:167637000-167646200	Weak transcription	Brain Hippocampus Middle	brain
31	chr5:167637200-167638000	Weak transcription	Fetal Lung	lung
32	chr5:167637200-167642000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:167637200-167644600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:167637200-167646000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:167637200-167646200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:167637200-167646400	Weak transcription	Brain Angular Gyrus	brain
37	chr5:167637200-167646400	Weak transcription	Brain Anterior Caudate	brain
38	chr5:167637200-167646400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr5:167637200-167646600	Weak transcription	Fetal Brain Male	brain
40	chr5:167637200-167646600	Weak transcription	NH-A	brain

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