Variant report

Variant	rs7822320
Chromosome Location	chr8:48578822-48578823
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr8:48578793-48579112	HepG2	liver:	n/a	chr8:48578928-48578939 chr8:48578927-48578938 chr8:48578927-48578942 chr8:48578927-48578938

Variant related genes	Relation type
RNU6-665P	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10092880	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10095193	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10107723	0.81[EUR][1000 genomes]
rs10958274	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1487438	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28542855	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3614	0.83[EUR][1000 genomes]
rs58297550	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992255	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72646358	0.83[EUR][1000 genomes]
rs72646361	0.87[EUR][1000 genomes]
rs72646363	0.81[EUR][1000 genomes]
rs72646372	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72646383	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs729228	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7812323	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7830743	0.80[EUR][1000 genomes]
rs7841661	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7843066	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48573000-48582600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:48573200-48589200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr8:48573400-48579200	Weak transcription	A549	lung
4	chr8:48573600-48582200	Weak transcription	Spleen	Spleen
5	chr8:48574200-48581800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:48574200-48589600	Weak transcription	Fetal Intestine Large	intestine
7	chr8:48574400-48591000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr8:48574400-48592600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:48574800-48580200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:48574800-48581200	Weak transcription	Brain Anterior Caudate	brain
11	chr8:48574800-48581200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:48574800-48581600	Weak transcription	Aorta	Aorta
13	chr8:48574800-48588200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr8:48574800-48588400	Weak transcription	NHLF	lung
15	chr8:48574800-48595800	Weak transcription	Ovary	ovary
16	chr8:48575000-48580400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr8:48575000-48581200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:48575000-48581600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:48575000-48589400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:48575600-48592000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr8:48575800-48580200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:48575800-48581200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:48576000-48581400	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:48576000-48589200	Weak transcription	Esophagus	oesophagus
25	chr8:48576000-48592800	Weak transcription	Small Intestine	intestine
26	chr8:48576000-48595800	Weak transcription	Gastric	stomach
27	chr8:48576200-48580600	Weak transcription	HSMMtube	muscle
28	chr8:48576200-48581000	Weak transcription	HSMM	muscle
29	chr8:48576200-48581800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:48576200-48591200	Weak transcription	Primary T cells from cord blood	blood
31	chr8:48576400-48581200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:48576400-48581600	Weak transcription	Brain Angular Gyrus	brain
33	chr8:48576400-48581800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:48576800-48581000	Weak transcription	Right Atrium	heart
35	chr8:48576800-48581000	Weak transcription	Right Ventricle	heart
36	chr8:48576800-48581200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:48576800-48581200	Weak transcription	Psoas Muscle	Psoas
38	chr8:48576800-48581800	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:48576800-48589400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr8:48576800-48591000	Weak transcription	Pancreas	Pancrea
41	chr8:48576800-48594600	Weak transcription	NHDF-Ad	bronchial
42	chr8:48576800-48612800	Weak transcription	Fetal Intestine Small	intestine
43	chr8:48577000-48580200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:48577000-48581000	Weak transcription	Placenta	Placenta
45	chr8:48577000-48581200	Weak transcription	Fetal Heart	heart
46	chr8:48577000-48589400	Weak transcription	Left Ventricle	heart
47	chr8:48578800-48579200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:48578800-48579400	Enhancers	Adipose Nuclei	Adipose
49	chr8:48578800-48582000	Active TSS	Liver	Liver

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