Variant report

Variant	rs10995339
Chromosome Location	chr10:52767174-52767175
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10128514	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1015288	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10761651	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10761657	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10822020	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10822032	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10822040	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10822045	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10822095	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10822101	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10995206	0.86[EUR][1000 genomes]
rs2339680	0.81[AFR][1000 genomes]
rs2879549	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35756803	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4041333	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6479833	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6479834	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6479835	1.00[CEU][hapmap];0.86[MEX][hapmap];0.86[MKK][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6479836	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6479839	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7070037	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7070266	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7076050	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7091997	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7093621	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7099130	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7100141	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7900993	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7905728	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7916612	0.84[AMR][1000 genomes];0.89[EUR][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	nsv831872	chr10:52663328-52818537	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831873	chr10:52710610-52899540	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10995339	ARHGAP22	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52756800-52794800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr10:52758000-52771800	Weak transcription	Right Atrium	heart
3	chr10:52765800-52767400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr10:52765800-52767400	Weak transcription	NHDF-Ad	bronchial
5	chr10:52766000-52767200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr10:52766000-52767200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr10:52766000-52767200	Weak transcription	Aorta	Aorta
8	chr10:52766000-52767800	Weak transcription	Psoas Muscle	Psoas
9	chr10:52766000-52770000	Weak transcription	Fetal Lung	lung
10	chr10:52766000-52773600	Weak transcription	NHLF	lung
11	chr10:52766000-52774000	Weak transcription	Left Ventricle	heart
12	chr10:52766000-52774000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr10:52766200-52767600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr10:52766400-52767200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr10:52766600-52767600	Weak transcription	HSMMtube	muscle
16	chr10:52766800-52768000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:52767000-52768200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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