Variant report

Variant	rs4603175
Chromosome Location	chr1:47874586-47874587
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	MXI1	chr1:47874469-47876385	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47873301..47878358-chr1:47879948..47882876,5	K562	blood:

Variant related genes	Relation type
ENSG00000225762	TF binding region
ENSG00000186790	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10157883	0.81[JPT][hapmap]
rs10399673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10789507	0.81[JPT][hapmap]
rs10890475	0.81[JPT][hapmap]
rs10890478	0.80[JPT][hapmap]
rs11211504	0.81[JPT][hapmap]
rs11211508	0.81[JPT][hapmap]
rs11211513	0.81[JPT][hapmap]
rs11211517	0.86[JPT][hapmap]
rs11211520	0.81[JPT][hapmap]
rs11577621	0.88[GIH][hapmap];0.84[TSI][hapmap]
rs11578776	0.88[GIH][hapmap];0.85[TSI][hapmap]
rs11582877	0.81[JPT][hapmap]
rs12039726	0.81[JPT][hapmap]
rs12070024	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12090153	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[MEX][hapmap];0.85[MKK][hapmap];0.89[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1316443	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2405922	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2472725	0.86[JPT][hapmap]
rs2622909	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2622917	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2622920	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2622921	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2622925	0.86[JPT][hapmap]
rs2742104	0.81[JPT][hapmap]
rs2758735	0.81[JPT][hapmap]
rs2820970	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2820971	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2820974	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2820989	0.86[JPT][hapmap]
rs2821088	0.81[JPT][hapmap]
rs2821093	0.86[JPT][hapmap]
rs3088062	0.81[JPT][hapmap]
rs3122607	0.81[JPT][hapmap]
rs3122611	0.81[JPT][hapmap]
rs3122615	0.80[JPT][hapmap]
rs3122619	0.81[JPT][hapmap]
rs3125624	0.81[JPT][hapmap]
rs3125630	0.81[JPT][hapmap]
rs3125633	0.86[JPT][hapmap]
rs3125635	0.81[JPT][hapmap]
rs3125644	0.81[JPT][hapmap]
rs3738315	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3925058	0.81[JPT][hapmap]
rs4492666	0.81[JPT][hapmap]
rs4926836	0.81[JPT][hapmap]
rs55718554	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs571281	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6588348	0.86[JPT][hapmap]
rs6660321	0.81[JPT][hapmap]
rs6671254	0.81[JPT][hapmap]
rs6673882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6673934	0.92[EUR][1000 genomes]
rs6697248	0.81[JPT][hapmap]
rs7525184	0.83[TSI][hapmap]
rs7525650	0.86[JPT][hapmap]
rs7532148	0.81[JPT][hapmap]
rs7552140	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9436430	0.85[JPT][hapmap]
rs9436882	0.81[JPT][hapmap]
rs9436899	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4603175	CMPK	Cis_1M	lymphoblastoid	RTeQTL
rs4603175	CMPK1	cis	lymphoblastoid	seeQTL
rs4603175	CYP4Z2P	cis	cerebellum	SCAN
rs4603175	CMPK1	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47871800-47875000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:47871800-47875200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:47872000-47874800	Weak transcription	Fetal Kidney	kidney
4	chr1:47872200-47874800	Weak transcription	NHDF-Ad	bronchial
5	chr1:47872400-47877800	Enhancers	Osteobl	bone
6	chr1:47872600-47875000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:47872800-47875200	Enhancers	HSMM	muscle
8	chr1:47872800-47877800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:47873000-47874800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:47873000-47876600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:47873200-47874800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:47873200-47874800	Enhancers	HMEC	breast
13	chr1:47873200-47875200	Enhancers	HSMMtube	muscle
14	chr1:47873400-47875400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:47873400-47877800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:47873600-47874600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:47873600-47874800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:47873600-47877200	Enhancers	Fetal Heart	heart
19	chr1:47873800-47879200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:47874000-47876200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:47874000-47876600	Enhancers	Fetal Lung	lung
22	chr1:47874200-47875600	Enhancers	NHEK	skin
23	chr1:47874400-47878400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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