Variant report

Variant	rs73320629
Chromosome Location	chr8:122635991-122635992
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:122629140..122631434-chr8:122633732..122636150,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16895786	1.00[AMR][1000 genomes]
rs16895925	1.00[AMR][1000 genomes]
rs16895952	1.00[AMR][1000 genomes]
rs16895987	1.00[AMR][1000 genomes]
rs16896014	1.00[AMR][1000 genomes]
rs16896147	1.00[AMR][1000 genomes]
rs16896211	1.00[AMR][1000 genomes]
rs57565988	1.00[AMR][1000 genomes]
rs57808767	1.00[AMR][1000 genomes]
rs58030477	1.00[AMR][1000 genomes]
rs58941677	1.00[AMR][1000 genomes]
rs60554881	1.00[AMR][1000 genomes]
rs60768551	1.00[AMR][1000 genomes]
rs73320654	1.00[AMR][1000 genomes]
rs73320659	1.00[AMR][1000 genomes]
rs73320675	1.00[AMR][1000 genomes]
rs73320694	1.00[AMR][1000 genomes]
rs73322724	1.00[AMR][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	nsv1033501	chr8:122436332-122758651	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831446	chr8:122535039-122711959	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr8:122615200-122644000	Weak transcription	Fetal Brain Male	brain
2	chr8:122616000-122640200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:122624800-122640800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr8:122626800-122643800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:122627000-122636200	Weak transcription	NH-A	brain
6	chr8:122627400-122649800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:122629800-122641000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:122630600-122636400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:122631600-122637000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:122631800-122636800	Genic enhancers	HSMM	muscle
11	chr8:122631800-122638200	Genic enhancers	Osteobl	bone
12	chr8:122632000-122648800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:122632400-122636400	Weak transcription	A549	lung
14	chr8:122632800-122636200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:122632800-122636400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr8:122632800-122636400	Enhancers	Fetal Lung	lung
17	chr8:122632800-122637800	Weak transcription	Fetal Stomach	stomach
18	chr8:122633000-122636200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:122633000-122636200	Weak transcription	HSMMtube	muscle
20	chr8:122633000-122636400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:122633000-122637400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:122633000-122638400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:122633200-122637800	Weak transcription	Fetal Muscle Leg	muscle
24	chr8:122633200-122638200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:122633400-122638800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:122634600-122636000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:122634600-122636400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:122634800-122636200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:122635200-122637000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:122635600-122636200	Enhancers	NHLF	lung
31	chr8:122635600-122636400	Enhancers	Fetal Kidney	kidney
32	chr8:122635600-122636800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:122635600-122637000	Genic enhancers	Muscle Satellite Cultured Cells	--
34	chr8:122635600-122637200	Enhancers	Primary hematopoietic stem cells	blood
35	chr8:122635800-122636200	Enhancers	NHDF-Ad	bronchial
36	chr8:122635800-122636600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:122635800-122637000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:122635800-122637200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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