Variant report

Variant	rs12293442
Chromosome Location	chr11:108272855-108272856
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10890831	1.00[YRI][hapmap]
rs10890838	0.85[ASW][hapmap];0.85[YRI][hapmap]
rs11212607	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11212630	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11212656	0.83[ASW][hapmap];0.90[LWK][hapmap];0.92[MKK][hapmap];0.94[YRI][hapmap]
rs11212664	0.83[ASW][hapmap];0.90[LWK][hapmap];0.94[YRI][hapmap]
rs11501004	0.86[AFR][1000 genomes]
rs11686	0.83[ASW][hapmap];0.90[LWK][hapmap];0.94[YRI][hapmap]
rs12278964	0.81[AFR][1000 genomes]
rs12285440	0.89[YRI][hapmap]
rs12287161	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.89[YRI][hapmap]
rs2234997	0.89[YRI][hapmap]
rs3092844	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes]
rs3218693	1.00[MEX][hapmap]
rs4357655	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4754317	0.83[LWK][hapmap];0.89[YRI][hapmap]
rs61603186	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv832262	chr11:108123831-108309350	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv832263	chr11:108183372-108384391	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108271200-108273200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr11:108272200-108273000	Enhancers	Fetal Intestine Small	intestine
3	chr11:108272200-108273000	Enhancers	HepG2	liver
4	chr11:108272400-108273000	Enhancers	Fetal Intestine Large	intestine
5	chr11:108272400-108273200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:108272400-108273200	Enhancers	Ovary	ovary
7	chr11:108272600-108273200	Enhancers	Fetal Kidney	kidney
8	chr11:108272800-108273200	Enhancers	K562	blood

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

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