Variant report

Variant	rs2028849
Chromosome Location	chr8:120565669-120565670
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	chr8:120564011..120565822-chr8:120569287..120571062,2	K562	blood:
2	chr8:120564971..120567945-chr8:120569047..120570627,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12114728	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13252721	0.93[ASN][1000 genomes]
rs28782203	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4268151	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4272411	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982484	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7002854	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7008680	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs714607	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 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	chr8:120558400-120565800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:120559200-120568000	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:120559400-120567200	Weak transcription	Brain Substantia Nigra	brain
4	chr8:120560000-120567000	Weak transcription	Fetal Lung	lung
5	chr8:120562800-120575000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:120564200-120566600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:120564200-120567200	Enhancers	NHDF-Ad	bronchial
8	chr8:120565000-120595200	Weak transcription	Fetal Stomach	stomach
9	chr8:120565400-120566400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:120565400-120566400	Enhancers	Osteobl	bone
11	chr8:120565400-120566600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr8:120565400-120566600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:120565400-120570400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:120565600-120565800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr8:120565600-120565800	Enhancers	Left Ventricle	heart
16	chr8:120565600-120565800	Enhancers	HSMMtube	muscle
17	chr8:120565600-120566000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:120565600-120566000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:120565600-120566000	Enhancers	Esophagus	oesophagus
20	chr8:120565600-120566000	Enhancers	Placenta	Placenta
21	chr8:120565600-120566000	Enhancers	Right Atrium	heart
22	chr8:120565600-120566000	Enhancers	Spleen	Spleen
23	chr8:120565600-120566000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr8:120565600-120566200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:120565600-120566200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr8:120565600-120566200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr8:120565600-120566200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:120565600-120566200	Enhancers	Hela-S3	cervix
29	chr8:120565600-120566200	Enhancers	HMEC	breast
30	chr8:120565600-120566200	Enhancers	HSMM	muscle
31	chr8:120565600-120566200	Enhancers	NHEK	skin
32	chr8:120565600-120566200	Enhancers	NHLF	lung
33	chr8:120565600-120566400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:120565600-120566400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr8:120565600-120566400	Enhancers	Adipose Nuclei	Adipose
36	chr8:120565600-120566600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:120565600-120567000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:120565600-120567800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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