Variant report

Variant	rs3133983
Chromosome Location	chr8:94949694-94949695
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:94927949..94930456-chr8:94947123..94950330,3	MCF-7	breast:
2	chr8:94928189..94929861-chr8:94949400..94951121,2	MCF-7	breast:
3	chr8:94742250..94744234-chr8:94947941..94950092,2	MCF-7	breast:
4	chr8:94949076..94950984-chr8:94954882..94956888,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164951	Chromatin interaction
ENSG00000251234	Chromatin interaction
ENSG00000264448	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs28758779	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3115898	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115904	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115905	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115907	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115908	0.83[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs3115909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115910	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115912	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115914	0.82[ASN][1000 genomes]
rs3133978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133979	0.98[EUR][1000 genomes]
rs3133980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs3133984	0.83[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs3133985	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs34468383	0.86[EUR][1000 genomes]
rs57919376	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58328810	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58550934	0.94[EUR][1000 genomes]
rs58894594	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59390113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525235	0.94[EUR][1000 genomes]
rs62525237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525241	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs723039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	esv2754970	chr8:94675324-94991724	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:94935800-94950800	Weak transcription	Placenta	Placenta
2	chr8:94936200-94950800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:94936400-94950800	Weak transcription	Brain Angular Gyrus	brain
4	chr8:94936400-94950800	Weak transcription	Fetal Lung	lung
5	chr8:94936600-94950800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:94936800-94950800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:94945400-94950800	Weak transcription	Lung	lung
8	chr8:94947800-94950400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:94948200-94956600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:94948400-94956400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:94948600-94950800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:94948600-94950800	Weak transcription	Right Atrium	heart
13	chr8:94948600-94952200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr8:94948800-94950600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:94948800-94950600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:94948800-94950600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:94948800-94950600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:94948800-94950600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:94948800-94950600	Weak transcription	Aorta	Aorta
20	chr8:94948800-94950600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr8:94948800-94950600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:94948800-94950600	Weak transcription	NHDF-Ad	bronchial
23	chr8:94948800-94950800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:94948800-94950800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:94948800-94950800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:94948800-94950800	Weak transcription	Adipose Nuclei	Adipose
27	chr8:94948800-94950800	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:94948800-94950800	Weak transcription	Left Ventricle	heart
29	chr8:94948800-94950800	Weak transcription	HSMM	muscle
30	chr8:94948800-94952000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:94948800-94952200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr8:94948800-94952800	Weak transcription	HSMMtube	muscle
33	chr8:94948800-94955800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:94948800-94955800	Weak transcription	Ovary	ovary
35	chr8:94948800-94956200	Weak transcription	NHLF	lung
36	chr8:94949000-94949800	Weak transcription	NHEK	skin
37	chr8:94949000-94950400	Weak transcription	Fetal Intestine Large	intestine
38	chr8:94949000-94950400	Weak transcription	Osteobl	bone
39	chr8:94949000-94950600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr8:94949000-94950600	Weak transcription	Fetal Heart	heart
41	chr8:94949000-94950600	Weak transcription	Pancreas	Pancrea
42	chr8:94949000-94950600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:94949000-94950600	Weak transcription	HMEC	breast
44	chr8:94949000-94950600	Weak transcription	HUVEC	blood vessel
45	chr8:94949000-94950800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:94949000-94950800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:94949000-94950800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:94949000-94950800	Weak transcription	Psoas Muscle	Psoas
49	chr8:94949000-94950800	Weak transcription	NH-A	brain
50	chr8:94949000-94954200	Weak transcription	Right Ventricle	heart

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