Variant report

Variant	rs593252
Chromosome Location	chr11:119880519-119880520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2850802	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs630332	0.97[EUR][1000 genomes]
rs651202	0.97[EUR][1000 genomes]
rs669812	0.82[EUR][1000 genomes]
rs675246	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs675714	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv832285	chr11:119789595-119957724	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1037777	chr11:119842515-119898368	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv541179	chr11:119842515-119898368	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv524406	chr11:119873404-119893179	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv2762948	chr11:119876596-119901422	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr11:119879600-119889200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr11:119879800-119881000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:119880000-119880800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:119880000-119880800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr11:119880200-119880600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
6	chr11:119880200-119880600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:119880200-119880800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:119880200-119881000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:119880200-119881200	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr11:119880200-119885000	Enhancers	Esophagus	oesophagus
11	chr11:119880400-119880600	Enhancers	Brain Germinal Matrix	brain
12	chr11:119880400-119881000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr11:119880400-119884200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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