Variant report

Variant	rs73707003
Chromosome Location	chr8:125711928-125711929
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125597468..125600069-chr8:125711742..125713559,2	MCF-7	breast:
2	chr8:125710245..125712051-chr8:125714540..125716829,2	MCF-7	breast:
3	chr8:125710219..125712075-chr8:125745092..125746820,2	K562	blood:
4	chr8:125710029..125712501-chr8:125825729..125827888,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10505444	1.00[EUR][1000 genomes]
rs56350078	1.00[EUR][1000 genomes]
rs57679308	1.00[EUR][1000 genomes]
rs57692957	1.00[EUR][1000 genomes]
rs58327286	1.00[EUR][1000 genomes]
rs73345821	1.00[EUR][1000 genomes]
rs73345837	1.00[EUR][1000 genomes]
rs73345871	1.00[EUR][1000 genomes]
rs73345875	1.00[EUR][1000 genomes]
rs73345878	1.00[EUR][1000 genomes]
rs73345889	1.00[EUR][1000 genomes]
rs73345891	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	esv1795075	chr8:125692343-125713791	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125701000-125721400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:125701600-125713200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:125701600-125713800	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:125701600-125717000	Weak transcription	Thymus	Thymus
5	chr8:125701800-125713400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr8:125701800-125714800	Weak transcription	NHEK	skin
7	chr8:125702000-125712200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:125702600-125730800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:125702800-125714800	Weak transcription	Fetal Kidney	kidney
10	chr8:125702800-125721400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:125702800-125721400	Weak transcription	Fetal Lung	lung
12	chr8:125703000-125720600	Weak transcription	Fetal Thymus	thymus
13	chr8:125703400-125712600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:125704800-125716600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr8:125705000-125722200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr8:125705200-125712000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:125705400-125713200	Weak transcription	Colonic Mucosa	Colon
18	chr8:125705600-125713800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:125705600-125720000	Weak transcription	Lung	lung
20	chr8:125706000-125719000	Weak transcription	Esophagus	oesophagus
21	chr8:125706600-125720800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:125706800-125715600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:125706800-125720400	Weak transcription	Stomach Mucosa	stomach
24	chr8:125707400-125721200	Weak transcription	Primary T cells from cord blood	blood
25	chr8:125708000-125716400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:125708000-125716400	Strong transcription	Liver	Liver
27	chr8:125708200-125712200	Strong transcription	Fetal Intestine Small	intestine
28	chr8:125709800-125712400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:125710000-125712000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:125710000-125713400	Strong transcription	Primary B cells from cord blood	blood
31	chr8:125710200-125712000	Strong transcription	HMEC	breast
32	chr8:125710200-125712200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:125710200-125713600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr8:125710200-125716600	Strong transcription	Fetal Intestine Large	intestine
35	chr8:125710400-125712000	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr8:125710400-125712000	Strong transcription	Spleen	Spleen
37	chr8:125710400-125714800	Enhancers	Brain Substantia Nigra	brain
38	chr8:125710400-125716600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:125710400-125716800	Strong transcription	HepG2	liver
40	chr8:125710800-125713800	Weak transcription	HUVEC	blood vessel
41	chr8:125710800-125714400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr8:125710800-125716600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:125711000-125712200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:125711200-125714400	Enhancers	Brain Cingulate Gyrus	brain
45	chr8:125711200-125716400	Strong transcription	Placenta	Placenta
46	chr8:125711400-125712000	Enhancers	Fetal Heart	heart
47	chr8:125711400-125712000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
48	chr8:125711400-125712000	Enhancers	HSMMtube	muscle
49	chr8:125711400-125712200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:125711400-125712200	Strong transcription	Primary hematopoietic stem cells	blood

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