Variant report

Variant	rs7000415
Chromosome Location	chr8:20658230-20658231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11204137	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1441791	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1441793	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1441794	0.84[ASN][1000 genomes]
rs1441795	0.83[ASN][1000 genomes]
rs2083642	0.81[ASN][1000 genomes]
rs2099830	0.82[ASN][1000 genomes]
rs2439719	0.81[ASN][1000 genomes]
rs2467527	0.84[ASN][1000 genomes]
rs2583663	0.82[ASN][1000 genomes]
rs2583664	0.84[ASN][1000 genomes]
rs2583667	0.81[ASN][1000 genomes]
rs2616145	0.81[ASN][1000 genomes]
rs2616146	0.81[ASN][1000 genomes]
rs2616148	0.81[ASN][1000 genomes]
rs2616205	0.85[ASN][1000 genomes]
rs2616207	0.82[ASN][1000 genomes]
rs2616208	0.82[ASN][1000 genomes]
rs2616210	0.81[ASN][1000 genomes]
rs2616211	0.81[ASN][1000 genomes]
rs2616212	0.81[ASN][1000 genomes]
rs6980972	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7000348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs920592	0.82[ASN][1000 genomes]
rs920593	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032450	chr8:20514995-21033577	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv539524	chr8:20514995-21033577	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2761417	chr8:20523767-20669443	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1033319	chr8:20606592-20718378	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv831257	chr8:20610436-20767433	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1021366	chr8:20624387-20726669	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv539525	chr8:20624387-20726669	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1020160	chr8:20652610-20825810	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv539526	chr8:20652610-20825810	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7000415	RHOBTB2	cis	parietal	SCAN
rs7000415	PIWIL2	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20656400-20659400	Enhancers	Brain Germinal Matrix	brain
2	chr8:20657200-20658400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:20657400-20658800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:20657400-20661000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:20657600-20659400	Enhancers	Fetal Heart	heart
6	chr8:20658000-20659200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:20658000-20659400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:20658000-20661000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:20658200-20658600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:20658200-20658800	Enhancers	Fetal Brain Female	brain
11	chr8:20658200-20661000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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