Variant report

Variant	rs11042619
Chromosome Location	chr11:10110197-10110198
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10128609	0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10128701	0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10840370	0.86[YRI][hapmap]
rs11042565	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs11042584	1.00[EUR][1000 genomes]
rs11042590	0.94[LWK][hapmap];0.85[MKK][hapmap]
rs11042616	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042631	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042649	0.83[YRI][hapmap]
rs11042651	0.92[YRI][hapmap]
rs11042670	0.88[AFR][1000 genomes]
rs11042672	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11042674	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11042684	0.85[AFR][1000 genomes]
rs11042691	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11042693	0.84[YRI][hapmap]
rs11042694	0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11042696	0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11042697	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11042698	0.91[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11042701	1.00[EUR][1000 genomes]
rs11042705	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11042706	1.00[EUR][1000 genomes]
rs11042707	0.91[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11042708	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11042709	0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11042710	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11042711	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11042715	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11530489	0.86[YRI][hapmap]
rs12269976	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12270278	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12270822	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12271159	0.92[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12271480	0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12272306	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12272934	0.84[YRI][hapmap]
rs12273035	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12274021	1.00[ASW][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12275641	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs12276925	1.00[EUR][1000 genomes]
rs12277936	0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12279495	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs12279727	0.85[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12279936	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12280877	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12281072	0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12282728	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12283105	0.82[YRI][hapmap]
rs12285084	0.92[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12285093	0.85[AFR][1000 genomes]
rs12287964	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12288716	0.88[AFR][1000 genomes]
rs12288833	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12291188	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12291783	1.00[EUR][1000 genomes]
rs12292901	0.92[YRI][hapmap];1.00[EUR][1000 genomes]
rs12294052	1.00[EUR][1000 genomes]
rs12294064	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13377400	0.85[AFR][1000 genomes]
rs13377561	1.00[TSI][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs1372812	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1372813	0.80[YRI][hapmap]
rs16907586	0.83[MKK][hapmap];0.82[YRI][hapmap]
rs16907612	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16907632	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4537746	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55919524	1.00[EUR][1000 genomes]
rs56948226	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57138875	1.00[EUR][1000 genomes]
rs57672320	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57743646	0.82[AFR][1000 genomes]
rs58354844	1.00[EUR][1000 genomes]
rs59629505	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59651099	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59709366	1.00[EUR][1000 genomes]
rs59928017	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60051250	1.00[EUR][1000 genomes]
rs7942109	0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv553476	chr11:10024311-10117435	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11042619	SBF2	cis	lymphoblastoid	seeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10098600-10121800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:10108400-10110200	Enhancers	HUVEC	blood vessel
3	chr11:10108600-10110400	Enhancers	Hela-S3	cervix
4	chr11:10109000-10112800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:10109400-10110400	Enhancers	Ovary	ovary
6	chr11:10109400-10112800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:10109600-10110200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:10109600-10110200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr11:10109600-10117000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr11:10110000-10110400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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