Variant report

Variant	rs990616
Chromosome Location	chr8:113274853-113274854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs1019350	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1019351	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10505176	1.00[CEU][hapmap];0.86[GIH][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs10955617	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10955618	1.00[CEU][hapmap];0.82[CHB][hapmap];0.97[GIH][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1158895	1.00[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11774512	0.85[EUR][1000 genomes]
rs11775013	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[GIH][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes]
rs11775082	0.94[EUR][1000 genomes]
rs11776386	0.94[EUR][1000 genomes]
rs11778155	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs11778209	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[GIH][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes]
rs11778262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778443	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs11778532	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11780474	0.94[EUR][1000 genomes]
rs11782384	1.00[CEU][hapmap]
rs11783361	0.94[EUR][1000 genomes]
rs11783495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11783519	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11784683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11785270	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11785419	1.00[CEU][hapmap];0.86[GIH][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap]
rs11786836	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11989521	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1420857	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1420861	0.81[EUR][1000 genomes]
rs1492676	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1548986	0.82[CHB][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16883301	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16883320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883350	0.94[ASW][hapmap];0.83[LWK][hapmap];0.82[YRI][hapmap]
rs16883359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16883360	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16883401	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16883404	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16883432	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs16883437	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16883454	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap]
rs16883506	1.00[CEU][hapmap];0.86[GIH][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs1861753	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1861754	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1861755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1948411	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1994795	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap]
rs1994796	0.93[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap]
rs2052339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2098455	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2111426	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2111427	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2201203	1.00[CEU][hapmap];0.82[CHB][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap]
rs2353271	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3922407	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3950674	0.94[EUR][1000 genomes]
rs4143626	0.86[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4398953	0.94[EUR][1000 genomes]
rs4428695	0.94[EUR][1000 genomes]
rs4876462	0.81[ASW][hapmap];0.83[LWK][hapmap]
rs55691798	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59534399	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62514386	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514388	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62514389	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62514394	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62514395	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62514396	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62514397	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62514400	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62514401	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62514402	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62514417	0.92[EUR][1000 genomes]
rs62514453	0.82[EUR][1000 genomes]
rs6415459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6981814	0.81[CEU][hapmap]
rs7009195	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7012192	0.82[YRI][hapmap];0.80[AFR][1000 genomes]
rs72672877	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72672894	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72674722	0.94[EUR][1000 genomes]
rs72674733	0.94[EUR][1000 genomes]
rs72674741	0.92[EUR][1000 genomes]
rs72674746	0.94[EUR][1000 genomes]
rs7820425	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7825635	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7826270	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7827158	0.86[CEU][hapmap];0.81[JPT][hapmap]
rs7844829	1.00[CEU][hapmap];0.89[CHB][hapmap];0.80[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs888254	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs929686	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs950983	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs963086	0.82[YRI][hapmap]

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	nsv533857	chr8:112819659-113801258	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1022457	chr8:113071774-113811177	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs990616	MPV17L	trans	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113267600-113275000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:113268800-113275000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr8:113269200-113275000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:113273000-113275000	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links