Variant report

Variant	rs2718990
Chromosome Location	chr8:67349995-67349996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67349410..67351285-chr8:67541036..67543466,2	K562	blood:
2	chr8:67347774..67350408-chr8:67352378..67355067,2	K562	blood:
3	chr8:67347890..67350478-chr8:67432607..67434929,2	MCF-7	breast:
4	chr8:67347726..67350540-chr8:67362226..67363853,2	K562	blood:
5	chr8:67344117..67347389-chr8:67347651..67352093,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147576	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10088592	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1025228	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1030419	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10957372	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12541098	0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs1426907	0.83[ASN][1000 genomes]
rs1426908	0.80[CHB][hapmap]
rs1559885	0.90[ASN][1000 genomes]
rs1963852	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2081649	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2162421	0.85[EUR][1000 genomes]
rs2357895	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2465982	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2465984	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2465985	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]
rs2555565	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2555571	0.87[ASN][1000 genomes]
rs2555575	0.96[CEU][hapmap];0.85[CHB][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.87[ASN][1000 genomes]
rs2555582	0.87[ASN][1000 genomes]
rs2555587	0.87[ASN][1000 genomes]
rs2718988	0.81[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2719006	0.96[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs2719009	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4737786	0.93[EUR][1000 genomes]
rs6472269	0.85[EUR][1000 genomes]
rs6472270	0.85[EUR][1000 genomes]
rs7002723	0.88[ASN][1000 genomes]
rs7005366	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs753082	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]
rs7845448	0.85[EUR][1000 genomes]
rs890515	0.95[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs890516	0.85[EUR][1000 genomes]
rs9693689	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs977467	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[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
rs2718990	ADHFE1	cis	Artery Tibial	GTEx
rs2718990	ADHFE1	cis	cerebellum	SCAN
rs2718990	C8orf46	cis	Esophagus Muscularis	GTEx
rs2718990	C8orf46	cis	Skin Sun Exposed Lower leg	GTEx
rs2718990	ADHFE1	cis	parietal	SCAN
rs2718990	C8orf46	cis	Adipose Subcutaneous	GTEx
rs2718990	C8orf46	cis	Thyroid	GTEx
rs2718990	ADHFE1	cis	Muscle Skeletal	GTEx
rs2718990	ADHFE1	cis	multi-tissue	Pritchard
rs2718990	CPA6	cis	parietal	SCAN
rs2718990	C8orf46	cis	Artery Tibial	GTEx

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67345200-67351000	Weak transcription	Hela-S3	cervix
2	chr8:67345400-67350600	Weak transcription	Fetal Brain Female	brain
3	chr8:67345400-67350800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr8:67345400-67350800	Weak transcription	Stomach Mucosa	stomach
5	chr8:67345600-67350200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:67345600-67350400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:67345600-67350400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:67345600-67350400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:67345600-67350400	Weak transcription	Fetal Lung	lung
10	chr8:67345600-67350600	Weak transcription	HUVEC	blood vessel
11	chr8:67345600-67350800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:67345600-67350800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:67345600-67351000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:67345600-67351000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:67345600-67351000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr8:67345600-67351000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:67345600-67351200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:67345600-67351400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:67345600-67351400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:67345600-67351400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:67345600-67351400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:67345600-67351400	Weak transcription	Esophagus	oesophagus
23	chr8:67345800-67350400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:67345800-67350800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr8:67345800-67350800	Enhancers	Liver	Liver
26	chr8:67345800-67350800	Weak transcription	NHDF-Ad	bronchial
27	chr8:67345800-67351000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr8:67345800-67351000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr8:67345800-67351000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:67345800-67351200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:67345800-67351200	Weak transcription	NHEK	skin
32	chr8:67345800-67351400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:67346000-67350600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr8:67346000-67350600	Weak transcription	Dnd41	blood
35	chr8:67346000-67351000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr8:67346000-67351000	Weak transcription	HMEC	breast
37	chr8:67346000-67351400	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:67346200-67350400	Weak transcription	HepG2	liver
39	chr8:67346200-67350800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr8:67346200-67351000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:67346400-67350600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:67346400-67351000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr8:67346400-67351000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:67346400-67351200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr8:67346400-67351400	Enhancers	Fetal Heart	heart
46	chr8:67346600-67350200	Weak transcription	Brain Substantia Nigra	brain
47	chr8:67346600-67350600	Weak transcription	A549	lung
48	chr8:67346800-67350200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr8:67346800-67351000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:67346800-67351400	Weak transcription	Brain Angular Gyrus	brain

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