Variant report

Variant	rs11803386
Chromosome Location	chr1:185760013-185760014
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11800969	1.00[AMR][1000 genomes]
rs11800973	0.87[AMR][1000 genomes]
rs6683213	0.87[AMR][1000 genomes]
rs74133274	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7514772	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7520399	0.87[AMR][1000 genomes]
rs9730339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185755400-185766600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:185756400-185761600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:185757600-185760200	Enhancers	Fetal Intestine Large	intestine
4	chr1:185759200-185760200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:185759200-185767000	Weak transcription	Fetal Lung	lung
6	chr1:185759800-185764000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:185760000-185764000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:185760000-185764200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:185760000-185764600	Weak transcription	Aorta	Aorta

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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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