Variant report

Variant	rs7842565
Chromosome Location	chr8:58947529-58947530
allele	C/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	MAFF	chr8:58947259-58947599	HepG2	liver:	n/a	chr8:58947422-58947440
2	MAFK	chr8:58947235-58947602	HepG2	liver:	n/a	chr8:58947423-58947438
3	MAFF	chr8:58947282-58947534	K562	blood:	n/a	chr8:58947422-58947440
4	MAFK	chr8:58947254-58947600	IMR90	lung:	n/a	chr8:58947423-58947438
5	MAFK	chr8:58947248-58947608	HepG2	liver:	n/a	chr8:58947423-58947438
6	MAFK	chr8:58947311-58947603	K562	blood:	n/a	chr8:58947423-58947438
7	MAFK	chr8:58947342-58947541	Hela-S3	cervix:	n/a	chr8:58947423-58947438

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:58943502..58945075-chr8:58945226..58947971,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253523	TF binding region
ENSG00000169122	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10086632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10089240	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10091875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10099623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504246	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1105302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.88[TSI][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1108188	0.81[CHB][hapmap]
rs11780747	0.81[CHB][hapmap]
rs11783171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998684	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs12114333	0.83[EUR][1000 genomes]
rs13249102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13252750	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13279262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34915140	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35124619	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35856042	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4407868	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.94[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4452790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4498527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4524775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4524776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55930039	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56128341	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57650783	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58124183	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60265023	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6994434	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999606	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7009526	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7017824	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7826402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828423	0.81[CHB][hapmap]
rs7841308	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7841370	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9297984	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831324	chr8:58844151-59045309	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong 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	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58927000-58948000	Weak transcription	Fetal Brain Male	brain
2	chr8:58935000-58948600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:58935000-58950200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:58935600-58988800	Weak transcription	Aorta	Aorta
5	chr8:58943200-58948200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:58943200-58950400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:58943800-58949600	Weak transcription	Placenta	Placenta
8	chr8:58943800-58950000	Weak transcription	Adipose Nuclei	Adipose
9	chr8:58943800-58951200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:58944000-58949400	Strong transcription	Fetal Muscle Trunk	muscle
11	chr8:58944000-58950200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:58944000-58950200	Weak transcription	Brain Substantia Nigra	brain
13	chr8:58944000-58950200	Weak transcription	HSMMtube	muscle
14	chr8:58944000-58950400	Weak transcription	Brain Anterior Caudate	brain
15	chr8:58944000-58950400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:58944000-58951400	Weak transcription	NHLF	lung
17	chr8:58944000-58951600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:58944200-58950000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:58944200-58950000	Weak transcription	NHDF-Ad	bronchial
20	chr8:58944400-58948800	Strong transcription	Fetal Stomach	stomach
21	chr8:58944400-58949000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:58944400-58949400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:58944600-58947600	Strong transcription	HSMM	muscle
24	chr8:58944600-58948400	Weak transcription	Ovary	ovary
25	chr8:58944600-58954400	Weak transcription	Fetal Intestine Small	intestine
26	chr8:58944600-58963000	Weak transcription	Stomach Mucosa	stomach
27	chr8:58944800-58962800	Weak transcription	Gastric	stomach
28	chr8:58945200-58947600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
29	chr8:58945200-58948400	Strong transcription	Fetal Lung	lung
30	chr8:58945400-58952200	Weak transcription	HepG2	liver
31	chr8:58945400-58957800	Weak transcription	Pancreas	Pancrea
32	chr8:58945600-58951600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:58945800-58950000	Weak transcription	Brain Germinal Matrix	brain
34	chr8:58946000-58960000	Weak transcription	Fetal Kidney	kidney
35	chr8:58946200-58949000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr8:58946200-58950200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:58946400-58947600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:58946400-58948200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:58946600-58948600	Enhancers	Colon Smooth Muscle	Colon
40	chr8:58946600-58952800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:58946600-58953200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:58946800-58948200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:58946800-58951600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:58947000-58948200	Weak transcription	Spleen	Spleen
45	chr8:58947000-58950200	Weak transcription	Brain Hippocampus Middle	brain
46	chr8:58947000-58954400	Weak transcription	Fetal Intestine Large	intestine
47	chr8:58947200-58948000	Weak transcription	Fetal Brain Female	brain
48	chr8:58947200-58948000	Weak transcription	Fetal Muscle Leg	muscle
49	chr8:58947200-58948000	Weak transcription	Psoas Muscle	Psoas
50	chr8:58947200-58948400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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