Variant report

Variant	rs73345875
Chromosome Location	chr8:125723734-125723735
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125720272..125722297-chr8:125722800..125725618,3	MCF-7	breast:
2	chr8:125716359..125718727-chr8:125721562..125724424,2	K562	blood:
3	chr8:125720957..125724014-chr8:125826711..125829294,4	K562	blood:
4	chr8:125723226..125726139-chr8:125726907..125728669,2	K562	blood:
5	chr8:125717643..125720038-chr8:125720908..125723820,4	MCF-7	breast:
6	chr8:125636931..125639466-chr8:125722447..125724460,2	MCF-7	breast:
7	chr8:125720652..125722765-chr8:125723516..125726290,2	MCF-7	breast:
8	chr8:125721106..125724843-chr8:125738874..125743336,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000170873	Chromatin interaction
ENSG00000255491	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10505444	1.00[EUR][1000 genomes]
rs28810782	1.00[EUR][1000 genomes]
rs56350078	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57679308	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57692957	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58327286	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345821	1.00[EUR][1000 genomes]
rs73345837	1.00[EUR][1000 genomes]
rs73345871	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345878	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345889	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345891	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73707003	1.00[EUR][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	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

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125702600-125730800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:125716200-125724800	Enhancers	Psoas Muscle	Psoas
3	chr8:125716800-125724800	Enhancers	Left Ventricle	heart
4	chr8:125716800-125725600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr8:125718600-125726600	Enhancers	Fetal Muscle Leg	muscle
6	chr8:125718600-125727400	Enhancers	Liver	Liver
7	chr8:125719800-125725000	Enhancers	Spleen	Spleen
8	chr8:125720000-125724800	Enhancers	Lung	lung
9	chr8:125720200-125724800	Enhancers	Fetal Heart	heart
10	chr8:125720200-125725600	Enhancers	HSMMtube	muscle
11	chr8:125720400-125723800	Enhancers	Right Atrium	heart
12	chr8:125720400-125724000	Enhancers	Brain Angular Gyrus	brain
13	chr8:125720400-125724000	Enhancers	Brain Cingulate Gyrus	brain
14	chr8:125720400-125724000	Enhancers	Brain Hippocampus Middle	brain
15	chr8:125720400-125724000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr8:125720400-125724400	Enhancers	Adipose Nuclei	Adipose
17	chr8:125720400-125725000	Enhancers	Brain Substantia Nigra	brain
18	chr8:125720600-125724200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:125721000-125725600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:125721200-125724600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:125721400-125723800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:125721400-125724800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:125721400-125724800	Enhancers	Right Ventricle	heart
24	chr8:125721600-125724600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:125721600-125724800	Enhancers	Fetal Muscle Trunk	muscle
26	chr8:125721600-125725000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:125721600-125725200	Enhancers	Fetal Brain Male	brain
28	chr8:125721600-125727000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:125721600-125728000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr8:125721600-125728000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr8:125721600-125729200	Weak transcription	Fetal Kidney	kidney
32	chr8:125722000-125724600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr8:125722000-125724800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr8:125722000-125724800	Enhancers	HMEC	breast
35	chr8:125722000-125725200	Enhancers	Fetal Brain Female	brain
36	chr8:125722000-125727200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr8:125722200-125724600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:125722200-125724600	Enhancers	Esophagus	oesophagus
39	chr8:125722200-125724800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:125722200-125724800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:125722200-125726400	Weak transcription	Stomach Mucosa	stomach
42	chr8:125722200-125726600	Enhancers	Primary B cells from peripheral blood	blood
43	chr8:125722200-125730600	Weak transcription	Fetal Stomach	stomach
44	chr8:125722200-125732200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:125722400-125723800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:125722400-125723800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr8:125722400-125724400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:125722400-125725400	Enhancers	Primary B cells from cord blood	blood
49	chr8:125722400-125725400	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr8:125722400-125726400	Weak transcription	Duodenum Mucosa	Duodenum

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