Variant report

Variant	rs12799241
Chromosome Location	chr11:119980729-119980730
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11217676	0.82[EUR][1000 genomes]
rs12798518	0.80[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	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119978800-119982600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:119979600-119981400	Weak transcription	Esophagus	oesophagus
3	chr11:119979600-119984600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:119979600-119988800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:119979800-119981400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:119980000-119981800	Weak transcription	HMEC	breast
7	chr11:119980000-119981800	Weak transcription	NHEK	skin
8	chr11:119980000-119983000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:119980000-119983800	Weak transcription	Hela-S3	cervix
10	chr11:119980400-119980800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:119980400-119981000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:119980400-119981600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:119980600-119980800	Bivalent Enhancer	Fetal Muscle Trunk	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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