Variant report

Variant	rs987653
Chromosome Location	chr9:72220499-72220500
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10123008	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10746682	1.00[CEU][hapmap];0.92[CHB][hapmap];0.81[MEX][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10780527	0.87[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs10780528	0.87[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs10780539	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10867825	0.95[CEU][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10867828	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10867830	0.86[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11139338	0.92[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap]
rs11139361	0.85[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap]
rs11139511	0.90[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1330334	0.81[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.80[GIH][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs1330336	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1411440	0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs1556211	0.91[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.80[EUR][1000 genomes]
rs1854702	1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs1854703	0.91[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1967880	0.87[CEU][hapmap];0.92[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs1970017	0.87[CEU][hapmap];0.92[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.80[EUR][1000 genomes]
rs2026150	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2161056	0.90[CEU][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.85[TSI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2309515	0.95[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4744913	0.87[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs4744914	0.81[EUR][1000 genomes]
rs4744917	1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs4744918	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4744919	0.89[CHB][hapmap];0.91[JPT][hapmap]
rs6559643	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs7030393	1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs7031694	0.81[CEU][hapmap];0.92[CHB][hapmap];0.91[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7853783	0.92[CHB][hapmap];0.85[JPT][hapmap];0.80[EUR][1000 genomes]
rs7871895	0.85[JPT][hapmap]
rs986352	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[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	nsv893437	chr9:72118962-72223176	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3425590	chr9:72217232-72221730	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs987653	GDA	cis	parietal	SCAN
rs987653	ZFAND5	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72215200-72221000	Weak transcription	Right Atrium	heart
2	chr9:72215600-72235200	Weak transcription	Aorta	Aorta
3	chr9:72217200-72221200	Enhancers	Ovary	ovary
4	chr9:72218800-72220600	Enhancers	HUVEC	blood vessel
5	chr9:72219000-72220600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr9:72219400-72221400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr9:72219600-72221200	Enhancers	NHDF-Ad	bronchial
8	chr9:72219600-72221400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:72219600-72226000	Weak transcription	Liver	Liver
10	chr9:72219800-72220600	Enhancers	Fetal Heart	heart
11	chr9:72219800-72242600	Weak transcription	Left Ventricle	heart
12	chr9:72220200-72220600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:72220200-72220600	Enhancers	Right Ventricle	heart
14	chr9:72220200-72221000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:72220400-72220600	Enhancers	Small Intestine	intestine
16	chr9:72220400-72221200	Enhancers	Fetal Muscle Leg	muscle
17	chr9:72220400-72221200	Enhancers	Psoas Muscle	Psoas

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