Variant report

Variant	rs12568291
Chromosome Location	chr1:178986555-178986556
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:178977019..178978702-chr1:178984062..178987860,3	K562	blood:
2	chr1:178978287..178981942-chr1:178982197..178988679,6	K562	blood:
3	chr1:178984886..178987264-chr1:179011722..179014379,2	K562	blood:
4	chr1:178985118..178988730-chr1:179014832..179016869,4	K562	blood:
5	chr1:178985568..178988566-chr1:179021410..179023796,2	K562	blood:
6	chr1:178982170..178984787-chr1:178986294..178987843,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10913673	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10913676	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10913681	0.90[ASN][1000 genomes]
rs10913689	0.91[CHB][hapmap];0.84[JPT][hapmap]
rs12064702	0.82[ASN][1000 genomes]
rs12567630	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12725164	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12733622	0.93[CHD][hapmap]
rs12735672	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2025581	0.85[ASN][1000 genomes]
rs2209453	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2224962	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2224963	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34636548	0.89[ASN][1000 genomes]
rs3766636	1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs4651011	0.90[ASN][1000 genomes]
rs4652346	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4652349	0.90[ASN][1000 genomes]
rs4652350	1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[JPT][hapmap];0.83[TSI][hapmap];0.89[ASN][1000 genomes]
rs4652352	1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[JPT][hapmap];0.81[TSI][hapmap];0.85[ASN][1000 genomes]
rs4652353	0.85[ASN][1000 genomes]
rs4652355	0.81[CEU][hapmap];0.85[CHD][hapmap];0.91[TSI][hapmap]
rs6425516	0.90[ASN][1000 genomes]
rs67498652	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7517000	0.87[CHB][hapmap];0.84[JPT][hapmap];0.83[TSI][hapmap]
rs7517999	1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs7520456	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7526276	0.89[ASN][1000 genomes]
rs7541378	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7541793	0.95[ASN][1000 genomes]
rs7548966	1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[JPT][hapmap];0.81[TSI][hapmap];0.89[ASN][1000 genomes]
rs9729556	0.87[CHB][hapmap];0.84[JPT][hapmap];0.81[TSI][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12568291	FAM20B	cis	lymphoblastoid	seeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:178978600-178991000	Weak transcription	Aorta	Aorta
2	chr1:178978600-178991200	Weak transcription	Psoas Muscle	Psoas
3	chr1:178984600-178986600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:178985000-178987200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:178985200-178986600	Enhancers	Fetal Muscle Trunk	muscle
6	chr1:178985400-178987000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr1:178985400-178987200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr1:178985400-178987400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:178985400-178987400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:178985400-178988200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:178985400-178988200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:178985600-178986600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr1:178985600-178986600	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr1:178985600-178987000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:178985600-178987400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:178985600-178987400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:178985600-178987400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr1:178985600-178987400	Enhancers	Left Ventricle	heart
19	chr1:178985600-178987400	Enhancers	HMEC	breast
20	chr1:178985600-178987600	Enhancers	Fetal Muscle Leg	muscle
21	chr1:178985600-178987600	Enhancers	Ovary	ovary
22	chr1:178985600-178987600	Flanking Active TSS	K562	blood
23	chr1:178985600-178988600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:178985800-178986600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:178985800-178987400	Enhancers	Brain Angular Gyrus	brain
26	chr1:178985800-178987400	Enhancers	Fetal Heart	heart
27	chr1:178986000-178986600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:178986000-178986600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:178986000-178986600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:178986000-178986600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr1:178986000-178986800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr1:178986000-178986800	Enhancers	Liver	Liver
33	chr1:178986000-178986800	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr1:178986000-178986800	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr1:178986000-178986800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr1:178986000-178987000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:178986000-178987000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:178986000-178987000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr1:178986000-178987200	Enhancers	Colon Smooth Muscle	Colon
40	chr1:178986000-178987200	Enhancers	Fetal Lung	lung
41	chr1:178986000-178987200	Flanking Active TSS	HepG2	liver
42	chr1:178986000-178987400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:178986000-178987400	Enhancers	Brain Cingulate Gyrus	brain
44	chr1:178986000-178987400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:178986000-178987400	Flanking Active TSS	A549	lung
46	chr1:178986000-178987400	Flanking Active TSS	Hela-S3	cervix
47	chr1:178986000-178987400	Enhancers	NH-A	brain
48	chr1:178986000-178987400	Enhancers	Osteobl	bone
49	chr1:178986000-178987800	Enhancers	Placenta	Placenta
50	chr1:178986200-178986600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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