Variant report

Variant	rs55911243
Chromosome Location	chr2:11799047-11799048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs35653499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57245099	1.00[AMR][1000 genomes]
rs58056834	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58288290	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61444193	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915461	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915470	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915472	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915474	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915475	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915478	1.00[AMR][1000 genomes]
rs73915479	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11780600-11807200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:11783600-11800000	Weak transcription	Brain Anterior Caudate	brain
3	chr2:11792200-11800800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:11797800-11799200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:11797800-11800000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr2:11798000-11799400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:11798000-11799400	Enhancers	NHEK	skin
8	chr2:11798200-11799400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:11798200-11809800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:11798600-11799600	Enhancers	Hela-S3	cervix
11	chr2:11798800-11799800	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr2:11799000-11799400	Enhancers	Skeletal Muscle Male	skeletal muscle

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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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