Variant report

Variant	rs34195517
Chromosome Location	chr10:96387178-96387179
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1010570	0.81[ASW][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.91[LWK][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs10736086	0.95[JPT][hapmap]
rs11187948	0.85[LWK][hapmap]
rs11187980	0.84[LWK][hapmap]
rs11188009	0.85[LWK][hapmap]
rs11188019	0.83[LWK][hapmap]
rs12762067	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12772169	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12772521	0.80[AMR][1000 genomes]
rs12774901	0.81[JPT][hapmap]
rs1326837	0.93[ASW][hapmap];0.85[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.93[LWK][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1575934	0.85[JPT][hapmap]
rs1998591	0.93[ASW][hapmap];0.85[CHB][hapmap];0.81[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.89[LWK][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2025445	0.81[JPT][hapmap]
rs2031322	0.81[JPT][hapmap]
rs2094296	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2104543	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2281889	0.86[JPT][hapmap]
rs2901783	0.85[CHB][hapmap];0.81[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes]
rs34870400	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4362080	0.83[CHB][hapmap]
rs68157779	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7078811	0.80[LWK][hapmap]
rs749744	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7914753	0.86[JPT][hapmap]
rs7916649	0.86[JPT][hapmap]
rs7921721	0.85[LWK][hapmap]
rs912466	0.85[LWK][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs34195517	CYP2C8	cis	cerebellum	SCAN
rs34195517	SORBS1	cis	parietal	SCAN
rs34195517	HELLS	cis	cerebellum	SCAN
rs34195517	NOC3L	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96383000-96387400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr10:96383400-96387800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr10:96383600-96389800	Weak transcription	Fetal Intestine Large	intestine
4	chr10:96383800-96388800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:96384400-96387400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:96386200-96387400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr10:96386200-96387600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr10:96386200-96387600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr10:96386200-96387600	Enhancers	NHEK	skin
10	chr10:96386200-96388000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr10:96386400-96387200	Enhancers	Fetal Kidney	kidney
12	chr10:96386400-96387600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr10:96386400-96387800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr10:96386600-96387600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr10:96386600-96387800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr10:96386800-96387400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr10:96386800-96392600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:96386800-96397800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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