Variant report

Variant	rs11112433
Chromosome Location	chr12:105657600-105657601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105625530..105628305-chr12:105656040..105658851,2	MCF-7	breast:
2	chr12:105646719..105649373-chr12:105657582..105659204,2	K562	blood:
3	chr12:105615953..105617646-chr12:105655942..105657913,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136044	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10459165	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1077896	0.95[AFR][1000 genomes]
rs10861363	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861367	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10861370	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112376	1.00[YRI][hapmap]
rs11112409	0.95[AFR][1000 genomes]
rs11112421	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11112423	0.97[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11112432	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11112440	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11112442	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112443	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11112444	0.86[AMR][1000 genomes]
rs11112446	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11112450	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12228093	1.00[YRI][hapmap]
rs12578730	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12580027	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12812433	0.95[AFR][1000 genomes]
rs12819309	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12819795	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2293643	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs34983773	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3736628	1.00[YRI][hapmap]
rs3794224	0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3817607	1.00[YRI][hapmap]
rs4964125	0.89[ASN][1000 genomes]
rs4964128	0.90[ASN][1000 genomes]
rs4964129	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4964336	1.00[YRI][hapmap]
rs4964339	0.95[AFR][1000 genomes]
rs4964340	0.95[AFR][1000 genomes]
rs4964347	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4964349	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4964351	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4964352	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4964353	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs4964354	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7132894	0.93[CEU][hapmap];0.84[CHB][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7132958	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73181849	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7484699	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7485511	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7485535	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7487098	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs755604	1.00[YRI][hapmap]

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	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11112433	LOC440934	trans	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105652600-105657800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:105652600-105661400	Weak transcription	HSMMtube	muscle
3	chr12:105653400-105661400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:105653400-105661400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:105656600-105661400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:105657200-105661800	Weak transcription	NHDF-Ad	bronchial
7	chr12:105657400-105657600	Enhancers	Esophagus	oesophagus

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