Variant report

Variant	rs57679308
Chromosome Location	chr8:125725214-125725215
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125720272..125722297-chr8:125722800..125725618,3	MCF-7	breast:
2	chr8:125723773..125726470-chr8:125730647..125734665,3	MCF-7	breast:
3	chr8:125723226..125726139-chr8:125726907..125728669,2	K562	blood:
4	chr8:125724861..125726657-chr8:125737345..125739867,2	MCF-7	breast:
5	chr8:125724601..125726380-chr8:125726742..125729212,2	MCF-7	breast:
6	chr8:125720652..125722765-chr8:125723516..125726290,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170873	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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57692957	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58327286	1.00[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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345875	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345891	0.94[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:73 , 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	chr8:125716800-125725600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:125718600-125726600	Enhancers	Fetal Muscle Leg	muscle
4	chr8:125718600-125727400	Enhancers	Liver	Liver
5	chr8:125720200-125725600	Enhancers	HSMMtube	muscle
6	chr8:125721000-125725600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:125721600-125727000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:125721600-125728000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:125721600-125728000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:125721600-125729200	Weak transcription	Fetal Kidney	kidney
11	chr8:125722000-125727200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:125722200-125726400	Weak transcription	Stomach Mucosa	stomach
13	chr8:125722200-125726600	Enhancers	Primary B cells from peripheral blood	blood
14	chr8:125722200-125730600	Weak transcription	Fetal Stomach	stomach
15	chr8:125722200-125732200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:125722400-125725400	Enhancers	Primary B cells from cord blood	blood
17	chr8:125722400-125725400	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr8:125722400-125726400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr8:125722400-125726800	Weak transcription	Fetal Intestine Large	intestine
20	chr8:125722400-125728000	Weak transcription	Gastric	stomach
21	chr8:125722400-125728200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr8:125722400-125729000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:125722600-125726200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr8:125722600-125726400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:125722600-125727600	Weak transcription	K562	blood
26	chr8:125722600-125728200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:125722600-125730800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:125722600-125732600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr8:125723000-125727600	Weak transcription	Pancreas	Pancrea
30	chr8:125723000-125730200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr8:125723200-125728000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:125723200-125730000	Weak transcription	Fetal Lung	lung
33	chr8:125723200-125737200	Weak transcription	Colon Smooth Muscle	Colon
34	chr8:125723400-125728200	Weak transcription	Brain Anterior Caudate	brain
35	chr8:125723600-125728200	Weak transcription	Placenta	Placenta
36	chr8:125723600-125737200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:125723800-125726200	Weak transcription	HepG2	liver
38	chr8:125723800-125727600	Weak transcription	Right Atrium	heart
39	chr8:125723800-125728000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:125723800-125728400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:125723800-125730800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:125724000-125728000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr8:125724000-125728200	Weak transcription	Brain Angular Gyrus	brain
44	chr8:125724000-125730000	Weak transcription	Brain Hippocampus Middle	brain
45	chr8:125724400-125726600	Weak transcription	Adipose Nuclei	Adipose
46	chr8:125724600-125725600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr8:125724600-125726000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:125724600-125726000	Weak transcription	Fetal Thymus	thymus
49	chr8:125724600-125727200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr8:125724600-125728000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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