Variant report

Variant	rs62506580
Chromosome Location	chr8:66842018-66842019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:66836978..66839571-chr8:66839813..66842033,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs58101985	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58175788	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62506579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62506584	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62506599	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62507653	0.84[AMR][1000 genomes]
rs72650514	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72650520	0.94[AMR][1000 genomes];0.94[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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1023239	chr8:66775321-66904124	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66837400-66842200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr8:66838800-66842800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:66840000-66842200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr8:66840000-66846800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr8:66840200-66846600	Enhancers	HMEC	breast
6	chr8:66840600-66842800	Enhancers	Dnd41	blood
7	chr8:66840600-66843200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:66840800-66842400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:66840800-66842400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:66840800-66842400	Enhancers	HepG2	liver
11	chr8:66841000-66842200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:66841000-66842400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:66841000-66842400	Enhancers	NHEK	skin
14	chr8:66841000-66843400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr8:66841200-66842800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr8:66841200-66843000	Enhancers	Primary T cells from cord blood	blood
17	chr8:66841200-66843400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:66841400-66842200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:66841400-66843000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:66841600-66842800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:66841600-66843000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr8:66841600-66843200	Enhancers	Thymus	Thymus
23	chr8:66841600-66843400	Enhancers	Fetal Thymus	thymus
24	chr8:66841600-66846200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr8:66841800-66842200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:66841800-66842200	Enhancers	A549	lung
27	chr8:66842000-66842200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr8:66842000-66842200	Enhancers	Brain Anterior Caudate	brain
29	chr8:66842000-66842200	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr8:66842000-66842200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr8:66842000-66842200	Flanking Active TSS	K562	blood
32	chr8:66842000-66842400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr8:66842000-66842400	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr8:66842000-66842800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:66842000-66843000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr8:66842000-66843200	Enhancers	Brain Angular Gyrus	brain
37	chr8:66842000-66843200	Enhancers	Brain Hippocampus Middle	brain
38	chr8:66842000-66843600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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