Variant report

Variant	rs11182495
Chromosome Location	chr12:44825753-44825754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10506245	1.00[JPT][hapmap]
rs10880632	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182486	1.00[ASN][1000 genomes]
rs11182490	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182493	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182496	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182497	0.94[ASN][1000 genomes]
rs11182501	0.94[ASN][1000 genomes]
rs11182517	0.87[ASN][1000 genomes]
rs11611818	0.94[ASN][1000 genomes]
rs11612521	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297907	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12301564	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12308701	0.94[ASN][1000 genomes]
rs12308760	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12308816	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12310262	0.94[ASN][1000 genomes]
rs12311228	1.00[ASN][1000 genomes]
rs12317228	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12318553	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12319211	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12319354	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1353143	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1353145	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1353146	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1353147	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493755	0.94[ASN][1000 genomes]
rs1493758	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1527315	1.00[JPT][hapmap]
rs1643432	0.85[CEU][hapmap];0.80[TSI][hapmap]
rs17094634	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094695	0.87[ASN][1000 genomes]
rs17121316	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17121322	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1716605	1.00[JPT][hapmap]
rs1716609	1.00[JPT][hapmap]
rs1726884	1.00[JPT][hapmap]
rs1726889	1.00[JPT][hapmap]
rs1798023	1.00[JPT][hapmap]
rs1798032	1.00[JPT][hapmap]
rs1873978	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1873980	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1873981	0.94[ASN][1000 genomes]
rs4639992	1.00[JPT][hapmap]
rs4768559	1.00[JPT][hapmap]
rs55781129	0.87[ASN][1000 genomes]
rs55962853	0.87[ASN][1000 genomes]
rs56020032	0.87[ASN][1000 genomes]
rs56115011	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56318423	0.87[ASN][1000 genomes]
rs59255697	0.87[ASN][1000 genomes]
rs60837979	0.87[ASN][1000 genomes]
rs68107418	0.94[ASN][1000 genomes]
rs7132743	0.94[ASN][1000 genomes]
rs7134756	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299010	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7302676	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs73094334	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309948	0.81[ASN][1000 genomes]
rs7314412	1.00[JPT][hapmap]
rs74085067	0.87[ASN][1000 genomes]
rs74085071	0.87[ASN][1000 genomes]
rs74085073	0.87[ASN][1000 genomes]
rs74085078	0.87[ASN][1000 genomes]
rs751921	1.00[ASN][1000 genomes]
rs7953681	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs7957832	0.87[ASN][1000 genomes]
rs7958300	0.87[ASN][1000 genomes]
rs7958770	0.87[ASN][1000 genomes]
rs7960681	0.87[ASN][1000 genomes]
rs7962332	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964751	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965110	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965383	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969400	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969428	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969466	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7969614	0.94[ASN][1000 genomes]
rs7970601	0.87[ASN][1000 genomes]
rs7971520	0.87[ASN][1000 genomes]
rs7972882	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978776	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979642	0.87[ASN][1000 genomes]
rs840773	1.00[JPT][hapmap]
rs840774	1.00[JPT][hapmap]
rs859016	1.00[JPT][hapmap]
rs863482	1.00[JPT][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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv972983	chr12:44825618-44826880	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11182495	SRSF2IP	cis	cerebellum	SCAN
rs11182495	PUS7L	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44823400-44839400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:44825200-44826000	Flanking Active TSS	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links