Variant report

Variant	rs7008138
Chromosome Location	chr8:67041086-67041087
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67029942..67032233-chr8:67040282..67042706,2	MCF-7	breast:
2	chr8:67038868..67041219-chr8:67343383..67346327,3	MCF-7	breast:
3	chr16:85496045..85498837-chr8:67039520..67042382,2	MCF-7	breast:
4	chr8:67024747..67027371-chr8:67038783..67042182,4	MCF-7	breast:
5	chr8:67035224..67038920-chr8:67039604..67043396,7	MCF-7	breast:
6	chr8:67034311..67037696-chr8:67040504..67042918,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253190	Chromatin interaction
ENSG00000147576	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6472250	0.91[YRI][hapmap];0.96[AFR][1000 genomes]
rs6998258	0.82[YRI][hapmap]

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	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67036800-67044800	Weak transcription	Pancreas	Pancrea
2	chr8:67036800-67044800	Weak transcription	Spleen	Spleen
3	chr8:67036800-67046400	Enhancers	NHLF	lung
4	chr8:67036800-67047000	Enhancers	NHDF-Ad	bronchial
5	chr8:67036800-67047200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:67037200-67042200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:67037400-67042400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:67037600-67041800	Weak transcription	Hela-S3	cervix
9	chr8:67037800-67041800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:67038800-67042600	Active TSS	Fetal Muscle Trunk	muscle
11	chr8:67038800-67042600	Active TSS	Right Atrium	heart
12	chr8:67038800-67043800	Active TSS	Right Ventricle	heart
13	chr8:67039000-67048800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr8:67039200-67041600	Active TSS	Left Ventricle	heart
15	chr8:67039200-67042400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:67039400-67042400	Weak transcription	GM12878-XiMat	blood
17	chr8:67039400-67043600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:67039600-67042400	Weak transcription	Placenta	Placenta
19	chr8:67040000-67042600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr8:67040200-67042200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:67040200-67042800	Enhancers	NH-A	brain
22	chr8:67040200-67043000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:67040200-67043600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:67040200-67043600	Enhancers	Osteobl	bone
25	chr8:67040200-67045400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:67040200-67050000	Enhancers	Adipose Nuclei	Adipose
27	chr8:67040400-67041200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr8:67040400-67042800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr8:67040400-67043000	Enhancers	NHEK	skin
30	chr8:67040400-67046400	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr8:67040600-67042800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:67040600-67043000	Enhancers	HMEC	breast
33	chr8:67040800-67041200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:67040800-67041600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:67040800-67041600	Transcr. at gene 5' and 3'	HSMM	muscle
36	chr8:67040800-67041800	Active TSS	HSMMtube	muscle
37	chr8:67040800-67042200	Flanking Active TSS	Liver	Liver
38	chr8:67040800-67042400	Active TSS	Fetal Muscle Leg	muscle
39	chr8:67040800-67044800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:67041000-67041400	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr8:67041000-67041600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:67041000-67041600	Enhancers	Psoas Muscle	Psoas
43	chr8:67041000-67041800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:67041000-67042000	Active TSS	Fetal Heart	heart
45	chr8:67041000-67042000	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr8:67041000-67042000	Enhancers	A549	lung
47	chr8:67041000-67046200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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