Variant report

Variant	rs11919943
Chromosome Location	chr3:46266726-46266727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46254841..46257750-chr3:46264550..46266874,2	K562	blood:
2	chr3:46254841..46257750-chr3:46263557..46266874,3	K562	blood:
3	chr3:46266350..46268265-chr3:46273199..46276182,2	K562	blood:
4	chr3:46263535..46265918-chr3:46265991..46267590,2	K562	blood:

Extended variants
information (count: 98 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10510750	0.87[CEU][hapmap]
rs11914967	0.83[YRI][hapmap]
rs11926063	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11929489	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13060713	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13060802	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13062523	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13067058	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13070099	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13073976	0.87[CEU][hapmap]
rs13075270	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13075836	0.87[CEU][hapmap];0.85[CHB][hapmap]
rs13088766	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13092160	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13095940	1.00[ASN][1000 genomes]
rs13095946	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13096307	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13096325	0.87[CEU][hapmap];0.85[CHB][hapmap]
rs13096371	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13096808	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs13097340	0.87[CEU][hapmap];0.85[CHB][hapmap]
rs13100243	0.87[CEU][hapmap]
rs1542755	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542756	0.94[EUR][1000 genomes]
rs17217831	0.87[CEU][hapmap]
rs17283712	0.87[CEU][hapmap]
rs2131092	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2201150	0.83[YRI][hapmap]
rs2373156	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3091310	0.87[CEU][hapmap]
rs3091314	0.85[CHB][hapmap]
rs3136663	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs3136667	0.87[CEU][hapmap];0.85[CHB][hapmap];0.82[LWK][hapmap];0.93[TSI][hapmap]
rs3136672	0.87[AMR][1000 genomes]
rs3176824	1.00[ASN][1000 genomes]
rs3176825	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3176826	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3181076	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3181078	1.00[ASN][1000 genomes]
rs3181080	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs33998492	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34005848	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34047458	1.00[ASN][1000 genomes]
rs34194160	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34272024	0.80[EUR][1000 genomes]
rs34280313	1.00[ASN][1000 genomes]
rs34289272	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34376347	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34414382	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34423195	1.00[ASN][1000 genomes]
rs34498313	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34531115	1.00[ASN][1000 genomes]
rs34611049	0.87[AMR][1000 genomes]
rs34625088	1.00[ASN][1000 genomes]
rs34677490	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34692251	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34745455	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34759782	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34865316	1.00[ASN][1000 genomes]
rs34919616	1.00[ASN][1000 genomes]
rs34985947	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35195804	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35335084	1.00[ASN][1000 genomes]
rs35354367	1.00[ASN][1000 genomes]
rs35429781	1.00[ASN][1000 genomes]
rs35431271	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35481399	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35587265	1.00[ASN][1000 genomes]
rs35613615	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35614049	1.00[ASN][1000 genomes]
rs35617677	1.00[ASN][1000 genomes]
rs35678191	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35775079	0.92[ASN][1000 genomes]
rs35984988	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36000011	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41432345	1.00[ASN][1000 genomes]
rs41537946	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4987053	0.87[CEU][hapmap]
rs57115330	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6775046	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71327039	1.00[ASN][1000 genomes]
rs71327040	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71327041	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71327042	0.94[EUR][1000 genomes]
rs71327043	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71327044	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71615441	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7620586	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7624155	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7628489	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7631551	0.87[CEU][hapmap];0.85[CHB][hapmap];0.86[TSI][hapmap]
rs7631658	0.82[YRI][hapmap]
rs7651539	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7653045	0.83[YRI][hapmap]
rs9832730	0.87[CEU][hapmap]
rs9838191	0.87[CEU][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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11919943	CCR1	cis	lymphoblastoid	seeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46262200-46267000	Enhancers	Primary B cells from peripheral blood	blood
2	chr3:46263600-46270000	Weak transcription	Fetal Lung	lung
3	chr3:46264200-46269600	Weak transcription	Placenta	Placenta
4	chr3:46264400-46276400	Weak transcription	Fetal Thymus	thymus
5	chr3:46265600-46270000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr3:46265600-46276400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:46265800-46269400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr3:46266600-46267400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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