Variant report

Variant	rs12807497
Chromosome Location	chr11:86560213-86560214
allele	A/G
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:15)

rs_ID	r²[population]
rs12785531	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12792551	0.92[AMR][1000 genomes]
rs12795324	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12795597	0.98[ASN][1000 genomes]
rs12797787	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12797823	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12800507	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12801911	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12802654	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12804499	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12808837	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34164281	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34168253	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34926341	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56241897	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS 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	29 gene(s)	inside rSNPs	diseases
4	nsv975959	chr11:86534725-86568919	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1836220	chr11:86542005-86573310	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3433331	chr11:86556944-86561876	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86537200-86580600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr11:86543200-86582600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:86547800-86562400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:86549600-86581400	Weak transcription	Ovary	ovary
5	chr11:86549800-86562400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:86549800-86576400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:86550000-86575200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:86558800-86562600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:86559000-86560400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:86559600-86560400	Enhancers	Fetal Heart	heart
11	chr11:86559600-86563400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:86559800-86560400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:86559800-86563600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:86560200-86560800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:86560200-86562400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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