Variant report

Variant	rs62520871
Chromosome Location	chr8:124607179-124607180
allele	A/G
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: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10087106	0.85[AMR][1000 genomes]
rs140613	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17254069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17254421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17255071	1.00[AMR][1000 genomes]
rs17255197	1.00[AMR][1000 genomes]
rs17337621	0.91[AMR][1000 genomes]
rs17338552	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17338860	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17339357	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17340040	1.00[AMR][1000 genomes]
rs62518433	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62518434	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62518437	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62518438	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62518439	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62518440	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62518561	1.00[AMR][1000 genomes]
rs62518563	1.00[AMR][1000 genomes]
rs62518564	1.00[AMR][1000 genomes]
rs62520862	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62520863	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62520870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62520874	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62520906	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62520908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62520911	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62520913	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62520914	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62520917	1.00[AMR][1000 genomes]
rs62520918	1.00[AMR][1000 genomes]
rs62520919	1.00[AMR][1000 genomes]
rs62520920	1.00[AMR][1000 genomes]
rs62520921	1.00[AMR][1000 genomes]
rs62520923	1.00[AMR][1000 genomes]
rs62520924	0.85[AMR][1000 genomes]
rs62520926	1.00[AMR][1000 genomes]
rs62520927	0.83[AMR][1000 genomes]
rs62521284	0.91[AMR][1000 genomes]
rs62521289	0.83[AMR][1000 genomes]
rs62521291	0.83[AMR][1000 genomes]
rs62521292	0.86[EUR][1000 genomes]
rs6999582	0.83[AMR][1000 genomes]
rs7004159	0.98[EUR][1000 genomes]
rs7827535	1.00[AMR][1000 genomes]
rs7827608	0.92[AMR][1000 genomes]
rs7832861	1.00[AMR][1000 genomes];1.00[EUR][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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124601400-124607200	Enhancers	Osteobl	bone
2	chr8:124602400-124609000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:124604400-124607200	Enhancers	HSMMtube	muscle
4	chr8:124604400-124609200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:124604800-124607200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:124604800-124608600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:124604800-124609200	Weak transcription	Aorta	Aorta
8	chr8:124605000-124608600	Weak transcription	Pancreas	Pancrea
9	chr8:124605000-124608800	Weak transcription	Placenta	Placenta
10	chr8:124605000-124609800	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:124605400-124607200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:124605400-124608400	Weak transcription	NHDF-Ad	bronchial
13	chr8:124605400-124608600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:124605600-124607200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:124605800-124607200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:124605800-124607200	Weak transcription	Fetal Lung	lung
17	chr8:124606200-124607200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:124606200-124607200	Enhancers	HSMM	muscle
19	chr8:124606200-124608600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr8:124606600-124607200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:124606600-124607200	Enhancers	Right Atrium	heart
22	chr8:124606600-124608600	Weak transcription	HMEC	breast
23	chr8:124606800-124607200	Enhancers	Esophagus	oesophagus
24	chr8:124607000-124607200	Enhancers	Fetal Stomach	stomach
25	chr8:124607000-124607200	Enhancers	Ovary	ovary
26	chr8:124607000-124607200	Enhancers	Psoas Muscle	Psoas
27	chr8:124607000-124609600	Weak transcription	Rectal Smooth Muscle	rectum

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