Variant report

Variant	rs1425048
Chromosome Location	chr8:120230625-120230626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120219693..120225456-chr8:120227472..120242098,24	MCF-7	breast:
2	chr8:120230549..120233126-chr8:120235489..120237736,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147676	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1154819	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1364704	1.00[EUR][1000 genomes]
rs1425049	1.00[EUR][1000 genomes]
rs1425068	0.87[EUR][1000 genomes]
rs1582675	0.88[AMR][1000 genomes]
rs1895706	0.83[AMR][1000 genomes]
rs2432969	0.94[AMR][1000 genomes]
rs2432978	0.83[AMR][1000 genomes]
rs2432984	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2432985	0.94[AMR][1000 genomes]
rs2468164	0.94[AMR][1000 genomes]
rs2470041	0.87[EUR][1000 genomes]
rs2470042	0.87[EUR][1000 genomes]
rs2875872	0.88[AMR][1000 genomes]
rs764292	0.88[AMR][1000 genomes];0.93[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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120222200-120241200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:120222200-120241400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:120222400-120234600	Weak transcription	HMEC	breast
4	chr8:120222400-120240200	Weak transcription	Fetal Stomach	stomach
5	chr8:120222600-120236800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:120223000-120238800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:120223000-120239800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr8:120223400-120233600	Weak transcription	Fetal Intestine Large	intestine
9	chr8:120223600-120234000	Enhancers	Liver	Liver
10	chr8:120223800-120262400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:120225200-120240000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:120225400-120231400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:120225600-120252400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:120226800-120231800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:120227600-120230800	Enhancers	Adipose Nuclei	Adipose
16	chr8:120228000-120234000	Weak transcription	Fetal Intestine Small	intestine
17	chr8:120228200-120231600	Weak transcription	Pancreas	Pancrea
18	chr8:120228200-120232200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:120228200-120233600	Weak transcription	NHEK	skin
20	chr8:120228200-120238800	Weak transcription	Esophagus	oesophagus
21	chr8:120228200-120239400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:120228400-120239600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:120228800-120231800	Weak transcription	Fetal Kidney	kidney
24	chr8:120229800-120246200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:120230000-120231000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:120230000-120231000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr8:120230200-120230800	Enhancers	Gastric	stomach
28	chr8:120230200-120233200	Enhancers	Stomach Mucosa	stomach
29	chr8:120230200-120233200	Enhancers	HepG2	liver
30	chr8:120230400-120231000	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr8:120230400-120231000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr8:120230400-120244200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr8:120230600-120230800	Enhancers	Brain Germinal Matrix	brain
34	chr8:120230600-120231800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:120230600-120231800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr8:120230600-120231800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:120230600-120232800	Weak transcription	Lung	lung
38	chr8:120230600-120232800	Weak transcription	Hela-S3	cervix
39	chr8:120230600-120261400	Weak transcription	Colonic Mucosa	Colon

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