Variant report

Variant	rs1025228
Chromosome Location	chr8:67357690-67357691
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67344979..67348651-chr8:67356606..67358747,3	K562	blood:
2	chr8:67351366..67354034-chr8:67356194..67358324,2	K562	blood:

Variant related genes	Relation type
ENSG00000147576	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10088592	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1030419	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1060242	0.86[GIH][hapmap]
rs10957372	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1108	0.86[GIH][hapmap]
rs12541098	0.90[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs13682	0.86[GIH][hapmap]
rs1426907	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1426908	0.85[CHB][hapmap]
rs1559885	0.85[ASN][1000 genomes]
rs1963852	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081649	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2162421	0.83[EUR][1000 genomes]
rs2357895	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2465982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2465984	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2465985	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]
rs2555565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2555571	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2555575	1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2555582	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2555587	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2718988	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2718990	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]
rs2719006	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2719009	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4737786	0.91[EUR][1000 genomes]
rs6472269	0.83[EUR][1000 genomes]
rs6472270	0.83[EUR][1000 genomes]
rs7002723	0.83[ASN][1000 genomes]
rs7005366	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs753082	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]
rs7845448	0.83[EUR][1000 genomes]
rs890515	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs890516	0.83[EUR][1000 genomes]
rs9693689	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs977467	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv3339106	chr8:67356798-67361196	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs1025228	C8orf46	cis	Artery Tibial	GTEx
rs1025228	CPA6	cis	parietal	SCAN
rs1025228	ADHFE1	cis	parietal	SCAN
rs1025228	C8orf46	cis	Thyroid	GTEx
rs1025228	C8orf46	cis	Adipose Subcutaneous	GTEx
rs1025228	ADHFE1	cis	Artery Tibial	GTEx
rs1025228	C8orf46	cis	Skin Sun Exposed Lower leg	GTEx
rs1025228	C8orf46	cis	Esophagus Muscularis	GTEx
rs1025228	ADHFE1	cis	Muscle Skeletal	GTEx
rs1025228	ADHFE1	cis	cerebellum	SCAN

Chromatin state (count:80 , 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	chr8:67352200-67357800	Weak transcription	Left Ventricle	heart
4	chr8:67352200-67358000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:67352200-67358000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr8:67352200-67358000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:67352200-67358000	Weak transcription	Pancreas	Pancrea
8	chr8:67352200-67360200	Weak transcription	Lung	lung
9	chr8:67352200-67360200	Weak transcription	Ovary	ovary
10	chr8:67352200-67360600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:67352200-67361000	Weak transcription	Spleen	Spleen
12	chr8:67352200-67361200	Weak transcription	Gastric	stomach
13	chr8:67352200-67361200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:67352200-67364600	Weak transcription	Psoas Muscle	Psoas
15	chr8:67352400-67357800	Weak transcription	Brain Anterior Caudate	brain
16	chr8:67352400-67358600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:67352400-67360200	Weak transcription	Right Ventricle	heart
18	chr8:67352400-67360800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:67352400-67361600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:67352400-67363600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:67352400-67366600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:67352600-67358200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr8:67352600-67363600	Weak transcription	Colon Smooth Muscle	Colon
24	chr8:67352800-67358000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr8:67353000-67358000	Weak transcription	HSMMtube	muscle
26	chr8:67353200-67358400	Weak transcription	Fetal Heart	heart
27	chr8:67353200-67361000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr8:67353200-67361200	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr8:67353400-67357800	Weak transcription	GM12878-XiMat	blood
30	chr8:67353400-67358000	Weak transcription	HSMM	muscle
31	chr8:67353400-67358000	Weak transcription	Osteobl	bone
32	chr8:67353400-67358400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:67353400-67358600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:67353400-67365400	Weak transcription	Fetal Brain Male	brain
35	chr8:67353400-67368000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:67353600-67358000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:67353600-67358000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:67353600-67360600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr8:67353600-67365200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:67353600-67372400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:67353800-67357800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:67354000-67360000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:67354000-67367800	Weak transcription	Stomach Mucosa	stomach
44	chr8:67354200-67360400	Weak transcription	Placenta	Placenta
45	chr8:67354800-67359400	Weak transcription	Fetal Intestine Large	intestine
46	chr8:67355000-67361200	Weak transcription	Fetal Intestine Small	intestine
47	chr8:67355000-67365200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr8:67355400-67361000	Weak transcription	Fetal Stomach	stomach
49	chr8:67355800-67359000	Weak transcription	Fetal Kidney	kidney
50	chr8:67356200-67358600	Weak transcription	Fetal Lung	lung

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