Variant report

Variant	rs7823383
Chromosome Location	chr8:125766414-125766415
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125760544..125764834-chr8:125765682..125769658,5	MCF-7	breast:
2	chr8:125739254..125742365-chr8:125764886..125767870,3	MCF-7	breast:
3	chr8:125764622..125767055-chr8:125770955..125773906,2	MCF-7	breast:
4	chr8:125763903..125766789-chr8:125789661..125792585,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13270557	0.81[ASN][1000 genomes]
rs13279462	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35999233	0.92[ASN][1000 genomes]
rs4242366	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4870926	0.85[ASN][1000 genomes]
rs4871534	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871536	0.81[ASN][1000 genomes]
rs4871537	0.81[ASN][1000 genomes]
rs4871538	0.81[ASN][1000 genomes]
rs4871539	0.97[EUR][1000 genomes]
rs4871540	0.93[EUR][1000 genomes]
rs6986404	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7013867	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7833381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7833511	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7841287	0.99[EUR][1000 genomes];0.94[ASN][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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125761600-125772200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:125763200-125767400	Weak transcription	Right Atrium	heart
3	chr8:125763800-125767800	Enhancers	HSMMtube	muscle
4	chr8:125764000-125767600	Enhancers	HSMM	muscle
5	chr8:125764400-125767000	Weak transcription	Pancreas	Pancrea
6	chr8:125764600-125767000	Weak transcription	HepG2	liver
7	chr8:125764600-125767400	Weak transcription	Left Ventricle	heart
8	chr8:125764600-125767400	Weak transcription	Psoas Muscle	Psoas
9	chr8:125764800-125766800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr8:125764800-125767000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:125764800-125767000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:125764800-125768600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr8:125764800-125769400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr8:125764800-125773600	Weak transcription	NHDF-Ad	bronchial
15	chr8:125765000-125766800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:125765000-125766800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:125765000-125766800	Weak transcription	NH-A	brain
18	chr8:125765000-125767000	Weak transcription	Osteobl	bone
19	chr8:125765000-125773600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:125765200-125769200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:125765400-125766600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:125765800-125767800	Enhancers	Fetal Heart	heart

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