Variant report

Variant	rs2465985
Chromosome Location	chr8:67353726-67353727
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67352250..67355147-chr8:67358287..67360742,2	K562	blood:
2	chr8:67347774..67350408-chr8:67352378..67355067,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 11 )

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

rs_ID	r²[population]
rs10088592	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1025228	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1030419	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1060242	0.82[GIH][hapmap]
rs10957372	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12541098	0.90[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs13682	0.82[GIH][hapmap]
rs1426907	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1426908	0.85[CHB][hapmap]
rs1559885	0.87[ASN][1000 genomes]
rs1963852	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2081649	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2162421	0.85[EUR][1000 genomes]
rs2357895	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2465982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2465984	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2555565	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2555571	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2555575	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2555582	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2555587	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2718988	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2718990	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2719006	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2719009	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4737786	0.93[EUR][1000 genomes]
rs6472269	0.85[EUR][1000 genomes]
rs6472270	0.85[EUR][1000 genomes]
rs7002723	0.84[ASN][1000 genomes]
rs7005366	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs753082	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]
rs7845448	0.85[EUR][1000 genomes]
rs890515	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs890516	0.85[EUR][1000 genomes]
rs9693689	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs977467	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[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:11)

SNP	Gene	Cis/trans	Tissue	Source
rs2465985	CPA6	cis	parietal	SCAN
rs2465985	ADHFE1	cis	multi-tissue	Pritchard
rs2465985	ADHFE1	cis	Artery Tibial	GTEx
rs2465985	C8orf46	cis	Artery Tibial	GTEx
rs2465985	ADHFE1	cis	Muscle Skeletal	GTEx
rs2465985	ADHFE1	cis	parietal	SCAN
rs2465985	C8orf46	cis	Skin Sun Exposed Lower leg	GTEx
rs2465985	ADHFE1	cis	Whole Blood	GTEx
rs2465985	C8orf46	cis	Esophagus Muscularis	GTEx
rs2465985	C8orf46	cis	Thyroid	GTEx
rs2465985	ADHFE1	cis	cerebellum	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67352000-67358600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:67352000-67363600	Weak transcription	Esophagus	oesophagus
3	chr8:67352200-67353800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:67352200-67353800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:67352200-67354200	Enhancers	Placenta	Placenta
6	chr8:67352200-67356200	Weak transcription	Liver	Liver
7	chr8:67352200-67357000	Weak transcription	Aorta	Aorta
8	chr8:67352200-67357400	Weak transcription	Brain Angular Gyrus	brain
9	chr8:67352200-67357800	Weak transcription	Left Ventricle	heart
10	chr8:67352200-67358000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:67352200-67358000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr8:67352200-67358000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:67352200-67358000	Weak transcription	Pancreas	Pancrea
14	chr8:67352200-67360200	Weak transcription	Lung	lung
15	chr8:67352200-67360200	Weak transcription	Ovary	ovary
16	chr8:67352200-67360600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:67352200-67361000	Weak transcription	Spleen	Spleen
18	chr8:67352200-67361200	Weak transcription	Gastric	stomach
19	chr8:67352200-67361200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:67352200-67364600	Weak transcription	Psoas Muscle	Psoas
21	chr8:67352400-67356200	Weak transcription	Adipose Nuclei	Adipose
22	chr8:67352400-67357600	Weak transcription	Brain Hippocampus Middle	brain
23	chr8:67352400-67357800	Weak transcription	Brain Anterior Caudate	brain
24	chr8:67352400-67358600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:67352400-67360200	Weak transcription	Right Ventricle	heart
26	chr8:67352400-67360800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:67352400-67361600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:67352400-67363600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr8:67352400-67366600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:67352600-67354000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr8:67352600-67357400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:67352600-67358200	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:67352600-67363600	Weak transcription	Colon Smooth Muscle	Colon
34	chr8:67352800-67354000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:67352800-67356800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr8:67352800-67357400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:67352800-67358000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr8:67353000-67358000	Weak transcription	HSMMtube	muscle
39	chr8:67353200-67358400	Weak transcription	Fetal Heart	heart
40	chr8:67353200-67361000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr8:67353200-67361200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr8:67353400-67357600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr8:67353400-67357800	Weak transcription	GM12878-XiMat	blood
44	chr8:67353400-67358000	Weak transcription	HSMM	muscle
45	chr8:67353400-67358000	Weak transcription	Osteobl	bone
46	chr8:67353400-67358400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr8:67353400-67358600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr8:67353400-67365400	Weak transcription	Fetal Brain Male	brain
49	chr8:67353400-67368000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:67353600-67354000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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