Variant report

Variant	rs2280830
Chromosome Location	chr8:59133313-59133314
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59132736..59134762-chr8:59135375..59137052,2	MCF-7	breast:
2	chr8:59129638..59131864-chr8:59132963..59136157,3	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10094616	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10094627	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10096039	0.81[AMR][1000 genomes]
rs10096199	0.81[AMR][1000 genomes]
rs10110724	0.81[AMR][1000 genomes]
rs10110841	0.81[AMR][1000 genomes]
rs11775997	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11777995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782854	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11782857	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13251851	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1395615	0.81[AMR][1000 genomes]
rs2089409	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2089410	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2280829	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35550805	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4455813	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6471689	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7827364	0.81[EUR][1000 genomes]
rs7834557	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs880058	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024575	chr8:59101248-59141010	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 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	chr8:59131000-59133600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:59132800-59133600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:59132800-59133800	Enhancers	NH-A	brain
4	chr8:59132800-59134200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:59132800-59135200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:59133000-59133400	Enhancers	GM12878-XiMat	blood
7	chr8:59133000-59133600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr8:59133000-59133800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:59133000-59133800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:59133000-59134000	Enhancers	HMEC	breast
11	chr8:59133000-59134000	Enhancers	NHLF	lung
12	chr8:59133000-59134200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:59133000-59134200	Enhancers	NHDF-Ad	bronchial
14	chr8:59133000-59134200	Enhancers	NHEK	skin
15	chr8:59133000-59134400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:59133000-59134400	Enhancers	Brain Hippocampus Middle	brain
17	chr8:59133000-59134400	Enhancers	HSMM	muscle
18	chr8:59133000-59134600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:59133000-59134600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:59133000-59134600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:59133000-59135000	Enhancers	Brain Cingulate Gyrus	brain
22	chr8:59133200-59133400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr8:59133200-59133600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:59133200-59133600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr8:59133200-59133600	Enhancers	Brain Germinal Matrix	brain
26	chr8:59133200-59134000	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr8:59133200-59134200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr8:59133200-59134200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr8:59133200-59134200	Enhancers	Fetal Lung	lung
30	chr8:59133200-59134400	Enhancers	Brain Angular Gyrus	brain
31	chr8:59133200-59134400	Enhancers	Brain Substantia Nigra	brain
32	chr8:59133200-59134400	Enhancers	HSMMtube	muscle

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