Variant report

Variant	rs12731806
Chromosome Location	chr1:47849756-47849757
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10157883	0.86[CEU][hapmap]
rs10437097	0.80[ASN][1000 genomes]
rs1044457	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211517	0.89[CEU][hapmap]
rs12118514	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12119783	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12121831	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12125261	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12126139	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12127982	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138072	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12141060	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12562561	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12730819	0.83[ASN][1000 genomes]
rs12732050	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12732410	0.84[ASN][1000 genomes]
rs12743643	0.83[ASN][1000 genomes]
rs17370337	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17452995	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2246707	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2472725	0.92[CEU][hapmap]
rs2622901	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2622905	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2622907	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2622908	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2622925	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2622926	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2742104	0.85[CEU][hapmap]
rs2758735	0.85[CEU][hapmap]
rs2820987	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2820988	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2820989	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2821088	0.85[CEU][hapmap]
rs2821093	0.89[CEU][hapmap]
rs3122607	0.86[CEU][hapmap]
rs3122610	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3122611	0.85[CEU][hapmap]
rs3122615	0.84[CEU][hapmap]
rs3122619	0.85[CEU][hapmap]
rs3125624	0.86[CEU][hapmap]
rs3125628	0.85[CEU][hapmap]
rs3125630	0.85[CEU][hapmap]
rs3125632	0.86[CEU][hapmap]
rs3125633	0.89[CEU][hapmap]
rs3125639	0.84[AMR][1000 genomes]
rs3125640	0.84[AMR][1000 genomes]
rs34400183	0.86[ASN][1000 genomes]
rs34952704	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35711761	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35774681	0.84[ASN][1000 genomes]
rs3814003	0.95[JPT][hapmap]
rs3925058	0.85[CEU][hapmap]
rs4492666	0.89[CEU][hapmap]
rs4926824	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55737131	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56270164	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56328227	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56391477	0.88[ASN][1000 genomes]
rs60399248	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61782706	0.82[ASN][1000 genomes]
rs6588348	0.89[CEU][hapmap]
rs6588365	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6671254	0.85[CEU][hapmap]
rs6692734	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6703956	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6795	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71645861	0.81[ASN][1000 genomes]
rs72686249	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7523987	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525650	0.89[CEU][hapmap]
rs7533562	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9436882	0.89[CEU][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12731806	CMPK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47800600-47854600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:47801000-47850800	Weak transcription	NHEK	skin
3	chr1:47814800-47850600	Weak transcription	Aorta	Aorta
4	chr1:47824000-47851000	Weak transcription	Stomach Mucosa	stomach
5	chr1:47824000-47853800	Weak transcription	Psoas Muscle	Psoas
6	chr1:47827800-47854800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:47832200-47854200	Weak transcription	Esophagus	oesophagus
8	chr1:47833200-47852000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:47833600-47854200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:47833600-47854200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:47834200-47850200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:47835200-47853400	Weak transcription	NHLF	lung
13	chr1:47835200-47853600	Weak transcription	Fetal Brain Male	brain
14	chr1:47835400-47849800	Weak transcription	Fetal Heart	heart
15	chr1:47835400-47853200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:47836000-47850200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:47836400-47854400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:47836600-47852800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:47836600-47854800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:47837200-47853200	Weak transcription	A549	lung
21	chr1:47839400-47854200	Weak transcription	Pancreas	Pancrea
22	chr1:47839400-47854200	Weak transcription	Right Ventricle	heart
23	chr1:47840000-47853400	Weak transcription	Fetal Intestine Small	intestine
24	chr1:47840200-47854200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:47841000-47850800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:47841000-47852000	Weak transcription	Brain Substantia Nigra	brain
27	chr1:47841400-47854200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:47841400-47854200	Weak transcription	Brain Angular Gyrus	brain
29	chr1:47841600-47850600	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr1:47841600-47854800	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:47843000-47850200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:47843200-47850400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:47844600-47853800	Weak transcription	Hela-S3	cervix
34	chr1:47845000-47851600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:47845200-47850000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:47845200-47851000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:47845200-47852200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:47845400-47849800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr1:47845400-47852400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:47845400-47854400	Weak transcription	HMEC	breast
41	chr1:47845600-47850200	Weak transcription	Spleen	Spleen
42	chr1:47845600-47850800	Weak transcription	Lung	lung
43	chr1:47845600-47854400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:47846400-47850200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:47846400-47850400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:47846400-47853400	Weak transcription	Fetal Stomach	stomach
47	chr1:47846800-47852000	Weak transcription	NH-A	brain
48	chr1:47846800-47852600	Weak transcription	Brain Germinal Matrix	brain
49	chr1:47846800-47853200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:47846800-47854200	Weak transcription	Gastric	stomach

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