Variant report

Variant	rs11134471
Chromosome Location	chr5:167250744-167250745
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10036294	0.90[ASN][1000 genomes]
rs10065043	0.82[CHB][hapmap]
rs10454965	1.00[ASW][hapmap]
rs10462970	0.95[CHB][hapmap];0.98[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs11134468	1.00[ASW][hapmap];0.90[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.90[MEX][hapmap];0.83[EUR][1000 genomes]
rs11134470	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11949355	0.80[EUR][1000 genomes]
rs11956673	0.83[EUR][1000 genomes]
rs12186530	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12516791	0.88[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs12520082	1.00[ASW][hapmap];0.90[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.90[MEX][hapmap];0.83[EUR][1000 genomes]
rs1364370	0.95[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1459073	1.00[ASW][hapmap]
rs17068860	1.00[ASW][hapmap]
rs17069129	0.90[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs2337000	0.86[CHB][hapmap];0.83[CHD][hapmap]
rs4479863	0.86[CHB][hapmap];0.83[CHD][hapmap]
rs4868807	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4869068	0.83[EUR][1000 genomes]
rs4869072	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57533222	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57674698	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58347375	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58922769	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6555769	0.87[ASN][1000 genomes]
rs6861976	0.91[ASN][1000 genomes]
rs6862936	0.82[CHB][hapmap]
rs6891311	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs6895940	0.86[CHB][hapmap]
rs72832012	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72832022	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7703715	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7708656	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7730435	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7737681	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11134471	MBL1P	trans	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167246800-167250800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:167248000-167258400	Weak transcription	Aorta	Aorta
3	chr5:167248400-167251400	Enhancers	Brain Germinal Matrix	brain
4	chr5:167248400-167255200	Weak transcription	Esophagus	oesophagus
5	chr5:167248600-167270000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:167250000-167253400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:167250200-167250800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:167250200-167251000	Transcr. at gene 5' and 3'	NHEK	skin
9	chr5:167250200-167251800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:167250200-167253800	Weak transcription	HMEC	breast
11	chr5:167250600-167251400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:167250600-167252000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr5:167250600-167255200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:167250600-167255800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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