Variant report

Variant	rs11948431
Chromosome Location	chr5:167403519-167403520
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10516039	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12153623	0.84[YRI][hapmap];0.81[AFR][1000 genomes]
rs17069547	1.00[CEU][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17069617	0.92[CEU][hapmap]
rs2617958	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs56379512	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs57271872	0.90[EUR][1000 genomes]
rs58243181	0.91[EUR][1000 genomes]
rs58485045	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66943039	0.89[EUR][1000 genomes]
rs67727213	0.91[EUR][1000 genomes]
rs6863895	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs6882264	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs72824974	0.85[EUR][1000 genomes]
rs73375658	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs754925	0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs889066	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs9764066	0.93[CEU][hapmap];0.89[EUR][1000 genomes]

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	nsv830546	chr5:167303135-167456271	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167385800-167407400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:167388200-167407600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:167391600-167410200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:167395200-167406800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:167396200-167407000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:167397000-167407800	Weak transcription	Left Ventricle	heart
7	chr5:167397200-167420800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:167400200-167405800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:167400800-167409400	Weak transcription	Right Ventricle	heart
10	chr5:167402200-167407200	Weak transcription	NHEK	skin
11	chr5:167402400-167404000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:167402400-167404600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:167402400-167407000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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