Variant report

Variant	rs12520720
Chromosome Location	chr5:127137471-127137472
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127130582..127132988-chr5:127136940..127138622,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10463833	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12523504	0.90[ASN][1000 genomes]
rs1515641	1.00[ASN][1000 genomes]
rs17696932	1.00[ASN][1000 genomes]
rs1897524	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1966643	0.87[ASN][1000 genomes]
rs35890477	0.88[ASN][1000 genomes]
rs57808867	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73345063	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7706845	0.94[ASN][1000 genomes]
rs7714051	1.00[ASN][1000 genomes]
rs7722425	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7729470	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9688160	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127135200-127143800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr5:127135400-127138200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:127135600-127137600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:127136600-127138200	Enhancers	Gastric	stomach
5	chr5:127136600-127138800	Enhancers	NHLF	lung
6	chr5:127136600-127139200	Enhancers	Stomach Mucosa	stomach
7	chr5:127137000-127137600	Enhancers	NHDF-Ad	bronchial
8	chr5:127137000-127137800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:127137000-127137800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:127137000-127138400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:127137000-127138800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:127137000-127139000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:127137000-127139000	Enhancers	HUVEC	blood vessel
14	chr5:127137200-127137600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:127137200-127137800	Enhancers	Osteobl	bone
16	chr5:127137200-127138400	Enhancers	NH-A	brain
17	chr5:127137200-127139000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:127137400-127137600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:127137400-127137600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr5:127137400-127137800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:127137400-127137800	Weak transcription	Left Ventricle	heart
22	chr5:127137400-127138200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr5:127137400-127138200	Enhancers	NHEK	skin
24	chr5:127137400-127138400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:127137400-127138400	Enhancers	Colon Smooth Muscle	Colon
26	chr5:127137400-127138400	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr5:127137400-127138400	Enhancers	Fetal Stomach	stomach
28	chr5:127137400-127138400	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr5:127137400-127139200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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