Variant report

Variant	rs62520872
Chromosome Location	chr8:124607370-124607371
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124606659..124608342-chr8:124651768..124654525,2	MCF-7	breast:
2	chr8:124603169..124606438-chr8:124607098..124610050,3	MCF-7	breast:
3	chr8:124595897..124597619-chr8:124606710..124608855,2	K562	blood:
4	chr8:124552309..124555212-chr8:124605796..124608821,3	MCF-7	breast:
5	chr8:124597117..124599176-chr8:124606571..124610166,3	MCF-7	breast:
6	chr8:124606691..124608207-chr8:124623300..124624802,2	MCF-7	breast:
7	chr8:124589966..124594613-chr8:124606326..124610133,5	MCF-7	breast:
8	chr8:124600695..124604171-chr8:124604350..124608237,3	MCF-7	breast:
9	chr8:124559237..124561974-chr8:124607116..124608954,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000156804	Chromatin interaction
ENSG00000251840	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17254013	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4529453	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4871387	0.90[EUR][1000 genomes]
rs4871389	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62518431	0.88[EUR][1000 genomes]
rs62518436	0.90[EUR][1000 genomes]
rs62520861	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62520864	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62520865	0.92[EUR][1000 genomes]
rs62520912	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[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	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124602400-124609000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr8:124604400-124609200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:124604800-124608600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:124604800-124609200	Weak transcription	Aorta	Aorta
5	chr8:124605000-124608600	Weak transcription	Pancreas	Pancrea
6	chr8:124605000-124608800	Weak transcription	Placenta	Placenta
7	chr8:124605000-124609800	Weak transcription	Colon Smooth Muscle	Colon
8	chr8:124605400-124608400	Weak transcription	NHDF-Ad	bronchial
9	chr8:124605400-124608600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:124606200-124608600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:124606600-124608600	Weak transcription	HMEC	breast
12	chr8:124607000-124609600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:124607200-124607400	Enhancers	Fetal Lung	lung
14	chr8:124607200-124608000	Weak transcription	Esophagus	oesophagus
15	chr8:124607200-124608600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:124607200-124608600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:124607200-124608600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:124607200-124608600	Weak transcription	Psoas Muscle	Psoas
19	chr8:124607200-124608600	Weak transcription	Right Atrium	heart
20	chr8:124607200-124608600	Weak transcription	HSMMtube	muscle
21	chr8:124607200-124608800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:124607200-124608800	Weak transcription	Osteobl	bone
23	chr8:124607200-124609000	Weak transcription	HSMM	muscle

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