Variant report

Variant	rs4391953
Chromosome Location	chr13:47830990-47830991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs60014919	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7985155	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9534573	0.87[EUR][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	esv2763019	chr13:47348229-48123447	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3394678	chr13:47678184-48039379	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832599	chr13:47703075-47873855	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv561585	chr13:47808232-47839338	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	n/a	n/a	inside rSNPs	diseases
5	nsv455878	chr13:47822976-47842680	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	lncRNA	n/a	inside rSNPs	diseases
6	nsv561586	chr13:47822976-47842680	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
7	nsv1046560	chr13:47826023-47854425	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:47827600-47832200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr13:47829400-47833000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr13:47830200-47831400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:47830200-47831600	Enhancers	NHDF-Ad	bronchial
5	chr13:47830400-47831200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:47830400-47831400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:47830400-47831400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr13:47830400-47831400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:47830400-47831400	Enhancers	HMEC	breast
10	chr13:47830400-47831400	Enhancers	NH-A	brain
11	chr13:47830400-47831400	Enhancers	NHEK	skin
12	chr13:47830600-47831200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:47830600-47831200	Enhancers	Osteobl	bone
14	chr13:47830800-47831200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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