Variant report

Variant	rs1126259
Chromosome Location	chr8:49647435-49647436
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr8:49647271-49648512	H1-hESC	embryonic stem cell:	n/a	chr8:49647555-49647567
2	MAX	chr8:49647384-49648345	H1-hESC	embryonic stem cell:	n/a	chr8:49647860-49647869

Variant related genes	Relation type
EFCAB1	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10090157	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10090819	0.85[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.86[MKK][hapmap];0.84[ASN][1000 genomes]
rs10092718	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10097910	1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.92[ASN][1000 genomes]
rs10101066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10111821	0.94[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1074382	0.80[JPT][hapmap]
rs10808720	0.80[JPT][hapmap]
rs11785748	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12155607	0.84[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12542203	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12547015	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12547603	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12547619	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12548278	0.89[JPT][hapmap]
rs13251991	0.80[JPT][hapmap]
rs13271216	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13276316	0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1482261	0.85[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1482262	0.80[JPT][hapmap]
rs1871889	0.80[JPT][hapmap]
rs2384970	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2891648	0.85[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs35243529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4873084	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4873285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4873287	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4873288	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55923266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6984858	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6990865	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7835152	0.94[CEU][hapmap];0.85[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.82[MKK][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs900237	0.80[JPT][hapmap]
rs900238	0.87[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9298058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs966703	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1126259	C8orf22	cis	cerebellum	SCAN
rs1126259	EFCAB1	cis	parietal	SCAN
rs1126259	EFCAB1	cis	cerebellum	SCAN

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49646800-49647600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr8:49646800-49647600	Flanking Active TSS	Fetal Lung	lung
3	chr8:49647000-49647600	Flanking Active TSS	NHEK	skin
4	chr8:49647000-49648000	Active TSS	Brain Anterior Caudate	brain
5	chr8:49647200-49647600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr8:49647200-49647600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
7	chr8:49647200-49647600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
8	chr8:49647200-49647600	Bivalent Enhancer	Fetal Heart	heart
9	chr8:49647200-49647600	Flanking Active TSS	Ovary	ovary
10	chr8:49647200-49648000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr8:49647200-49648000	Enhancers	Fetal Brain Male	brain
12	chr8:49647200-49648200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
13	chr8:49647200-49648200	Active TSS	Fetal Kidney	kidney
14	chr8:49647200-49648200	Active TSS	NHLF	lung
15	chr8:49647200-49648400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr8:49647200-49648400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
17	chr8:49647200-49648600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:49647400-49647600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
19	chr8:49647400-49647600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:49647400-49647600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:49647400-49647600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:49647400-49647600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:49647400-49647600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
24	chr8:49647400-49647600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:49647400-49647600	Enhancers	Liver	Liver
26	chr8:49647400-49647600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
27	chr8:49647400-49647600	Bivalent Enhancer	Colon Smooth Muscle	Colon
28	chr8:49647400-49647600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr8:49647400-49647600	Enhancers	Esophagus	oesophagus
30	chr8:49647400-49647600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr8:49647400-49647600	Bivalent Enhancer	Fetal Intestine Small	intestine
32	chr8:49647400-49647600	Enhancers	Placenta	Placenta
33	chr8:49647400-49647600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
34	chr8:49647400-49647600	Enhancers	Left Ventricle	heart
35	chr8:49647400-49647600	Enhancers	Lung	lung
36	chr8:49647400-49647600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
37	chr8:49647400-49647600	Enhancers	Right Ventricle	heart
38	chr8:49647400-49647600	Flanking Bivalent TSS/Enh	A549	lung
39	chr8:49647400-49647600	Bivalent Enhancer	HUVEC	blood vessel
40	chr8:49647400-49647600	Flanking Bivalent TSS/Enh	NH-A	brain
41	chr8:49647400-49647800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:49647400-49647800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:49647400-49647800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
44	chr8:49647400-49648000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:49647400-49648000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr8:49647400-49648000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:49647400-49648000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:49647400-49648000	Active TSS	Muscle Satellite Cultured Cells	--
49	chr8:49647400-49648000	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr8:49647400-49648000	Active TSS	Rectal Mucosa Donor 31	rectum

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