Variant report

Variant	rs12808008
Chromosome Location	chr11:119985570-119985571
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1075790	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12790585	0.80[AMR][1000 genomes]
rs12807982	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1901707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1050132	chr11:119976310-120010437	Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119979600-119988800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:119981400-119987800	Strong transcription	Esophagus	oesophagus
3	chr11:119981600-119987800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:119981800-119987800	Strong transcription	NHEK	skin
5	chr11:119981800-119991200	Strong transcription	HMEC	breast
6	chr11:119981800-119991400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr11:119982000-119990600	Strong transcription	Placenta	Placenta
8	chr11:119983600-119989000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:119984200-119986200	Weak transcription	Fetal Thymus	thymus
10	chr11:119984400-119986000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:119985200-119986000	Strong transcription	Hela-S3	cervix
12	chr11:119985400-119985600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:119985400-119987400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:119985400-119993000	Weak transcription	Right Atrium	heart

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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