Variant report

Variant	rs10092687
Chromosome Location	chr8:67045076-67045077
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67026208..67027713-chr8:67043472..67045571,2	MCF-7	breast:
2	chr8:67044508..67046368-chr8:67048019..67049856,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10093091	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs10095931	0.91[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10101457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10104916	0.94[ASW][hapmap];0.80[MKK][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes]
rs10113208	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113415	0.83[CEU][hapmap]
rs11986216	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs11986805	0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988053	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993015	1.00[ASN][1000 genomes]
rs11997416	0.86[YRI][hapmap]
rs11997605	0.83[CEU][hapmap]
rs12334408	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13264487	0.82[CEU][hapmap]
rs13266516	0.83[CEU][hapmap]
rs16932426	1.00[CHB][hapmap]
rs16932461	1.00[CHB][hapmap]
rs16932465	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs16932468	1.00[CHB][hapmap]
rs16932514	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932544	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17306183	1.00[CHB][hapmap]
rs17307227	1.00[CHB][hapmap]
rs2357570	1.00[CHB][hapmap]
rs2357571	1.00[CHB][hapmap]
rs2357669	1.00[ASN][1000 genomes]
rs28364018	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs3176921	0.88[ASW][hapmap];0.86[YRI][hapmap]
rs4262310	0.83[CEU][hapmap]
rs4366069	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4380923	1.00[CHB][hapmap]
rs4495409	0.94[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4495411	1.00[CHB][hapmap]
rs4496952	1.00[ASN][1000 genomes]
rs4565445	1.00[CHB][hapmap]
rs5030877	0.86[YRI][hapmap]
rs56409403	1.00[ASN][1000 genomes]
rs56981664	1.00[ASN][1000 genomes]
rs59142644	1.00[ASN][1000 genomes]
rs6472245	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6472248	0.83[CEU][hapmap]
rs6472249	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472251	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472254	0.86[YRI][hapmap];0.86[AFR][1000 genomes]
rs6472255	0.86[YRI][hapmap]
rs6472256	0.86[YRI][hapmap]
rs6985796	1.00[CHB][hapmap]
rs6988195	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990624	0.86[YRI][hapmap]
rs6996265	0.86[YRI][hapmap]
rs6998761	0.94[ASW][hapmap];0.80[MKK][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes]
rs7006334	1.00[CHB][hapmap]
rs7006394	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7008359	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013524	0.88[ASW][hapmap];0.86[YRI][hapmap]
rs73246516	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246529	1.00[ASN][1000 genomes]
rs73246531	1.00[ASN][1000 genomes]
rs73246553	1.00[ASN][1000 genomes]
rs73691300	1.00[ASN][1000 genomes]
rs7814933	1.00[CHB][hapmap]
rs7818219	1.00[CHB][hapmap]
rs7818902	0.85[YRI][hapmap];0.87[AFR][1000 genomes]
rs7822243	0.94[ASW][hapmap];0.80[MKK][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs7824630	0.83[CEU][hapmap]
rs7826464	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs7827531	0.83[CEU][hapmap]
rs7830926	0.92[AFR][1000 genomes]
rs7834423	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835948	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[LWK][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836993	1.00[CHB][hapmap]
rs7838500	0.86[YRI][hapmap];0.87[AFR][1000 genomes]
rs7842707	0.89[ASW][hapmap];0.80[MKK][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs7842761	0.94[ASW][hapmap];0.80[MKK][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs7843077	0.92[CEU][hapmap]
rs7843605	0.86[YRI][hapmap];0.87[AFR][1000 genomes]
rs7845334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884839	0.83[CEU][hapmap]
rs9694082	0.94[ASW][hapmap];0.80[MKK][hapmap];0.86[YRI][hapmap];0.84[AFR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10092687	ADHFE1	cis	cerebellum	SCAN
rs10092687	ADHFE1	cis	parietal	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67036800-67046400	Enhancers	NHLF	lung
2	chr8:67036800-67047000	Enhancers	NHDF-Ad	bronchial
3	chr8:67036800-67047200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:67039000-67048800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:67040200-67045400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:67040200-67050000	Enhancers	Adipose Nuclei	Adipose
7	chr8:67040400-67046400	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr8:67041000-67046200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:67041400-67045200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:67042400-67047200	Enhancers	Fetal Muscle Leg	muscle
11	chr8:67042600-67069200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:67042800-67046000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr8:67043400-67047400	Genic enhancers	HSMM	muscle
14	chr8:67043600-67045800	Genic enhancers	Fetal Heart	heart
15	chr8:67043600-67046400	Genic enhancers	Muscle Satellite Cultured Cells	--
16	chr8:67043800-67046200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr8:67044000-67045600	Enhancers	Right Ventricle	heart
18	chr8:67044000-67049200	Weak transcription	Right Atrium	heart
19	chr8:67044000-67057800	Weak transcription	Liver	Liver
20	chr8:67044200-67049800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:67044400-67046200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:67044400-67046200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:67044600-67045400	Enhancers	Osteobl	bone
24	chr8:67044600-67045600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:67044600-67045600	Enhancers	Fetal Muscle Trunk	muscle
26	chr8:67044600-67045600	Enhancers	Left Ventricle	heart
27	chr8:67044600-67045800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:67044600-67046000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:67044600-67046000	Enhancers	HMEC	breast
30	chr8:67044600-67046000	Enhancers	NHEK	skin
31	chr8:67044600-67046800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:67044800-67045200	Enhancers	A549	lung
33	chr8:67044800-67045400	Enhancers	Pancreas	Pancrea
34	chr8:67044800-67045400	Enhancers	Psoas Muscle	Psoas
35	chr8:67044800-67045600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:67044800-67045600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:67044800-67045600	Bivalent Enhancer	Primary B cells from cord blood	blood
38	chr8:67044800-67045600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:67044800-67045600	Enhancers	Spleen	Spleen
40	chr8:67044800-67045600	Enhancers	GM12878-XiMat	blood
41	chr8:67044800-67046000	Enhancers	Placenta	Placenta
42	chr8:67044800-67046000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr8:67044800-67046200	Enhancers	NH-A	brain
44	chr8:67045000-67046800	Enhancers	HSMMtube	muscle

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