Variant report

Variant	rs12281069
Chromosome Location	chr11:45912012-45912013
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10838523	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12281674	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12284956	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2037311	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4756038	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73466394	0.85[AMR][1000 genomes]
rs73468311	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9300053	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][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	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1047462	chr11:45898630-45953696	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active 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	14 gene(s)	inside rSNPs	diseases
3	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1794798	chr11:45903280-45953636	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45907600-45912400	Weak transcription	Liver	Liver
2	chr11:45907600-45920800	Weak transcription	Right Atrium	heart
3	chr11:45908000-45912400	Weak transcription	Pancreas	Pancrea
4	chr11:45908000-45912800	Enhancers	Fetal Brain Male	brain
5	chr11:45908000-45913000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:45908400-45914800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:45908400-45916200	Weak transcription	Brain Anterior Caudate	brain
8	chr11:45908600-45912600	Weak transcription	Brain Hippocampus Middle	brain
9	chr11:45908600-45917600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:45909200-45912400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:45909400-45914200	Weak transcription	Brain Angular Gyrus	brain
12	chr11:45909600-45912800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:45909600-45913200	Weak transcription	Brain Germinal Matrix	brain
14	chr11:45910000-45912600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:45910000-45917400	Weak transcription	Fetal Brain Female	brain
16	chr11:45911800-45914400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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

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