Variant report

Variant	rs9516847
Chromosome Location	chr13:97828430-97828431
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10220223	0.85[CEU][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs16953899	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16953900	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17235551	0.92[JPT][hapmap]
rs17301278	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17301327	0.81[CHB][hapmap]
rs17301334	0.81[CHB][hapmap]
rs2282424	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3825522	0.92[JPT][hapmap]
rs4445760	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4456365	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5024203	0.86[ASN][1000 genomes]
rs57348783	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57806253	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59695980	0.94[EUR][1000 genomes]
rs61107763	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6491338	0.86[ASN][1000 genomes]
rs6491339	0.92[JPT][hapmap]
rs6491341	0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs7317886	0.89[EUR][1000 genomes]
rs7317904	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7322677	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7322973	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7331281	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7332127	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7332327	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7337250	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7338056	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7338420	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7338629	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7983632	0.88[EUR][1000 genomes]
rs7983895	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7988998	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7989356	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990235	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990802	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7991020	0.91[JPT][hapmap]
rs7995449	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7997476	0.83[ASN][1000 genomes]
rs7997574	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8000282	0.85[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs9513209	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9513210	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9513211	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9513214	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9513215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9513216	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9513219	0.86[ASN][1000 genomes]
rs9513221	0.85[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs9516832	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9516834	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9516835	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9516841	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9516843	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9516844	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9516845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9516846	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9516848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9516849	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9516850	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9516853	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9516864	0.86[ASN][1000 genomes]
rs9516867	0.86[ASN][1000 genomes]
rs9516870	0.85[CEU][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.86[ASN][1000 genomes]
rs9516871	0.85[CEU][hapmap]
rs9516872	0.85[CEU][hapmap]
rs9584530	0.86[ASN][1000 genomes]

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	nsv1137	chr13:97803474-97848814	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9516847	MBNL2	cis	multi-tissue	Pritchard
rs9516847	RAP2A	cis	parietal	SCAN
rs9516847	GPC5	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97816200-97830600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:97824800-97830800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:97827400-97828600	Weak transcription	Placenta	Placenta
4	chr13:97827800-97832800	Weak transcription	Aorta	Aorta
5	chr13:97828200-97828800	Enhancers	Fetal Stomach	stomach
6	chr13:97828400-97829000	Enhancers	Placenta Amnion	Placenta Amnion

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