Variant report

Variant	rs13158926
Chromosome Location	chr5:114725250-114725251
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114713804..114715548-chr5:114724717..114726881,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11959552	0.82[ASN][1000 genomes]
rs13170069	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs13178035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13357967	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs17137669	0.81[ASN][1000 genomes]
rs2963775	0.90[JPT][hapmap]
rs35067235	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35715303	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35759988	0.82[ASN][1000 genomes]
rs6886805	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71579488	0.87[EUR][1000 genomes]
rs71579489	0.86[EUR][1000 genomes]
rs7701924	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2757132	chr5:114697260-114737583	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2759370	chr5:114697260-114737583	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv882733	chr5:114702503-114726351	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13158926	CTC-428G20.1	cis	Whole Blood	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114723400-114726000	Enhancers	NHLF	lung
2	chr5:114723800-114726800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:114724000-114726000	Enhancers	NHDF-Ad	bronchial
4	chr5:114724200-114726000	Enhancers	Fetal Lung	lung
5	chr5:114724400-114725800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:114724600-114725400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:114724800-114725400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:114724800-114725400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:114724800-114725800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:114724800-114725800	Enhancers	Fetal Stomach	stomach
11	chr5:114724800-114725800	Enhancers	Stomach Smooth Muscle	stomach
12	chr5:114725000-114725600	Enhancers	HSMMtube	muscle
13	chr5:114725000-114725800	Enhancers	Fetal Heart	heart
14	chr5:114725200-114725600	Enhancers	Fetal Muscle Trunk	muscle
15	chr5:114725200-114725800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:114725200-114725800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:114725200-114725800	Enhancers	Left Ventricle	heart
18	chr5:114725200-114725800	Enhancers	Pancreas	Pancrea
19	chr5:114725200-114725800	Enhancers	Right Atrium	heart
20	chr5:114725200-114725800	Enhancers	Right Ventricle	heart
21	chr5:114725200-114725800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr5:114725200-114726000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr5:114725200-114726200	Enhancers	Fetal Muscle Leg	muscle

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