Variant report

Variant	rs61444193
Chromosome Location	chr2:11796883-11796884
allele	A/C
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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55911243	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57245099	1.00[AMR][1000 genomes]
rs58056834	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58288290	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915461	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915462	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915465	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915469	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915470	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915472	1.00[AMR][1000 genomes]
rs73915474	1.00[AMR][1000 genomes]
rs73915475	1.00[AMR][1000 genomes]
rs73915478	1.00[AMR][1000 genomes]
rs73915479	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:17 , 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	chr2:11783800-11797400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:11792200-11800800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:11792600-11797400	Weak transcription	Brain Substantia Nigra	brain
6	chr2:11793400-11798200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:11793800-11797800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:11796800-11797000	Enhancers	Right Ventricle	heart
9	chr2:11796800-11797200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:11796800-11797200	Flanking Bivalent TSS/Enh	HepG2	liver
11	chr2:11796800-11797400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:11796800-11797400	Bivalent Enhancer	Placenta	Placenta
13	chr2:11796800-11797400	Enhancers	Gastric	stomach
14	chr2:11796800-11797400	Enhancers	Lung	lung
15	chr2:11796800-11797800	Enhancers	Ovary	ovary
16	chr2:11796800-11798000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:11796800-11798600	Weak transcription	Hela-S3	cervix

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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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