Variant report

Variant	rs62521293
Chromosome Location	chr8:124561056-124561057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124525454..124527637-chr8:124558520..124561372,2	K562	blood:
2	chr8:124559432..124561596-chr8:124564087..124567565,3	MCF-7	breast:
3	chr8:124559237..124561974-chr8:124607116..124608954,2	MCF-7	breast:
4	chr8:124560690..124563548-chr8:124570641..124572984,3	MCF-7	breast:
5	chr8:124558876..124561148-chr8:124573181..124575247,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs28578258	1.00[ASN][1000 genomes]
rs28627713	1.00[ASN][1000 genomes]
rs4529453	0.94[AFR][1000 genomes]
rs4871384	0.92[ASN][1000 genomes]
rs4871385	1.00[ASN][1000 genomes]
rs4871389	0.94[AFR][1000 genomes]
rs62518431	0.84[ASN][1000 genomes]
rs62520861	0.94[AFR][1000 genomes]
rs62520864	0.83[AFR][1000 genomes]
rs7821824	1.00[ASN][1000 genomes]
rs7835433	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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	nsv525827	chr8:124555235-124565311	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124554400-124563600	Weak transcription	Aorta	Aorta
2	chr8:124554600-124562400	Weak transcription	Adipose Nuclei	Adipose
3	chr8:124554600-124563400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:124554600-124563600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:124558800-124561200	Enhancers	Osteobl	bone
6	chr8:124558800-124561400	Enhancers	NHDF-Ad	bronchial
7	chr8:124558800-124571400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:124559200-124561200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:124559200-124561200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:124559400-124563400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:124559400-124564800	Weak transcription	Fetal Lung	lung
12	chr8:124559400-124564800	Weak transcription	Fetal Stomach	stomach
13	chr8:124559600-124564800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:124560000-124561200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:124560200-124561400	Enhancers	NHLF	lung
16	chr8:124560400-124563400	Weak transcription	Ovary	ovary
17	chr8:124560600-124561400	Enhancers	NHEK	skin
18	chr8:124560600-124562600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:124560600-124562600	Weak transcription	HSMM	muscle
20	chr8:124560600-124562800	Weak transcription	NH-A	brain
21	chr8:124560800-124561200	Enhancers	Esophagus	oesophagus
22	chr8:124560800-124562600	Weak transcription	HSMMtube	muscle
23	chr8:124561000-124562400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:124561000-124562400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:124561000-124562600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr8:124561000-124562600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:124561000-124562600	Weak transcription	HMEC	breast
28	chr8:124561000-124562800	Weak transcription	Small Intestine	intestine
29	chr8:124561000-124563200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:124561000-124563400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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