Variant report

Variant	rs753082
Chromosome Location	chr8:67353258-67353259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67352250..67355147-chr8:67358287..67360742,2	K562	blood:
2	chr8:67351675..67353546-chr8:67976584..67978905,2	MCF-7	breast:
3	chr8:67347774..67350408-chr8:67352378..67355067,2	K562	blood:

Variant related genes	Relation type
ENSG00000121022	Chromatin interaction
ENSG00000104218	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10088592	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1025228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1030419	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10957372	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12541098	0.90[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs1426907	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1426908	0.85[CHB][hapmap]
rs1543907	0.80[EUR][1000 genomes]
rs1559885	0.88[ASN][1000 genomes]
rs1963852	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2081649	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2162421	0.86[EUR][1000 genomes]
rs2357895	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2465982	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2465984	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2465985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2555565	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2555571	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2555575	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2555582	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2555587	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2718988	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2718990	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2719006	0.96[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2719009	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4737786	0.94[EUR][1000 genomes]
rs6472269	0.86[EUR][1000 genomes]
rs6472270	0.86[EUR][1000 genomes]
rs7002723	0.85[ASN][1000 genomes]
rs7005366	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7845448	0.86[EUR][1000 genomes]
rs890515	0.96[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs890516	0.86[EUR][1000 genomes]
rs9693689	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes]
rs977467	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs753082	ADHFE1	cis	Artery Tibial	GTEx
rs753082	C8orf46	cis	Skin Sun Exposed Lower leg	GTEx
rs753082	C8orf46	cis	Artery Tibial	GTEx
rs753082	ADHFE1	cis	Muscle Skeletal	GTEx
rs753082	C8orf46	cis	Adipose Subcutaneous	GTEx
rs753082	C8orf46	cis	Thyroid	GTEx
rs753082	C8orf46	cis	Esophagus Muscularis	GTEx

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67351800-67353400	Enhancers	Hela-S3	cervix
2	chr8:67352000-67353400	Enhancers	HMEC	breast
3	chr8:67352000-67353600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:67352000-67353600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:67352000-67358600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:67352000-67363600	Weak transcription	Esophagus	oesophagus
7	chr8:67352200-67353400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:67352200-67353400	Enhancers	A549	lung
9	chr8:67352200-67353400	Enhancers	GM12878-XiMat	blood
10	chr8:67352200-67353400	Enhancers	NHLF	lung
11	chr8:67352200-67353400	Enhancers	Osteobl	bone
12	chr8:67352200-67353600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:67352200-67353600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:67352200-67353600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:67352200-67353600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr8:67352200-67353800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:67352200-67353800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:67352200-67354200	Enhancers	Placenta	Placenta
19	chr8:67352200-67356200	Weak transcription	Liver	Liver
20	chr8:67352200-67357000	Weak transcription	Aorta	Aorta
21	chr8:67352200-67357400	Weak transcription	Brain Angular Gyrus	brain
22	chr8:67352200-67357800	Weak transcription	Left Ventricle	heart
23	chr8:67352200-67358000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:67352200-67358000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr8:67352200-67358000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr8:67352200-67358000	Weak transcription	Pancreas	Pancrea
27	chr8:67352200-67360200	Weak transcription	Lung	lung
28	chr8:67352200-67360200	Weak transcription	Ovary	ovary
29	chr8:67352200-67360600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:67352200-67361000	Weak transcription	Spleen	Spleen
31	chr8:67352200-67361200	Weak transcription	Gastric	stomach
32	chr8:67352200-67361200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:67352200-67364600	Weak transcription	Psoas Muscle	Psoas
34	chr8:67352400-67353400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:67352400-67356200	Weak transcription	Adipose Nuclei	Adipose
36	chr8:67352400-67357600	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:67352400-67357800	Weak transcription	Brain Anterior Caudate	brain
38	chr8:67352400-67358600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:67352400-67360200	Weak transcription	Right Ventricle	heart
40	chr8:67352400-67360800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr8:67352400-67361600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr8:67352400-67363600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr8:67352400-67366600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr8:67352600-67354000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr8:67352600-67357400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr8:67352600-67358200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr8:67352600-67363600	Weak transcription	Colon Smooth Muscle	Colon
48	chr8:67352800-67353400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:67352800-67353400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:67352800-67353400	Enhancers	HSMM	muscle

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