Variant report

Variant	rs62518561
Chromosome Location	chr8:124642225-124642226
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124640436..124642516-chr8:124772118..124774923,2	MCF-7	breast:
2	chr8:124635851..124638436-chr8:124639907..124645326,4	MCF-7	breast:
3	chr8:124630537..124633840-chr8:124641197..124643373,3	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10087106	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs140613	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17254069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17254421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17255071	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17255197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17337621	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17338552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17338860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17339357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17340040	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62518433	0.92[AMR][1000 genomes]
rs62518434	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62518437	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62518438	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62518439	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62518440	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62518563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62518564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62520862	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62520863	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62520870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62520871	1.00[AMR][1000 genomes]
rs62520874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62520906	0.83[AMR][1000 genomes]
rs62520908	1.00[AMR][1000 genomes]
rs62520911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62520913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62520914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62520917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62520918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62520919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62520920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62520921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62520923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62520924	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62520926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62520927	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62521279	1.00[AFR][1000 genomes]
rs62521284	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62521289	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62521291	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6999582	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7827535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7827608	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7832861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124629200-124645400	Weak transcription	Aorta	Aorta
2	chr8:124631200-124643000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:124634200-124642600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:124635200-124642400	Weak transcription	HSMMtube	muscle
5	chr8:124635200-124642800	Weak transcription	Placenta	Placenta
6	chr8:124639600-124642400	Enhancers	K562	blood
7	chr8:124640200-124647800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:124640800-124646600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr8:124641400-124646400	Enhancers	HMEC	breast
10	chr8:124641600-124643400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:124641600-124643600	Enhancers	Hela-S3	cervix
12	chr8:124641600-124643600	Enhancers	NHEK	skin
13	chr8:124641600-124643800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:124641600-124643800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr8:124641600-124646000	Enhancers	NHDF-Ad	bronchial
16	chr8:124641800-124642600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:124641800-124642800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:124641800-124643400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:124641800-124643400	Enhancers	Fetal Heart	heart
20	chr8:124641800-124643400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr8:124641800-124643800	Enhancers	Osteobl	bone
22	chr8:124641800-124646200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:124642000-124642600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:124642000-124651800	Weak transcription	Right Ventricle	heart
25	chr8:124642200-124642400	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr8:124642200-124642600	Weak transcription	Esophagus	oesophagus
27	chr8:124642200-124642600	Weak transcription	Left Ventricle	heart
28	chr8:124642200-124642600	Weak transcription	Psoas Muscle	Psoas
29	chr8:124642200-124643200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:124642200-124643200	Flanking Active TSS	A549	lung
31	chr8:124642200-124643200	Enhancers	NHLF	lung
32	chr8:124642200-124643800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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