Variant report

Variant	rs741959
Chromosome Location	chr1:47676233-47676234
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs1015890	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10789504	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890471	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10890472	0.84[EUR][1000 genomes]
rs11211479	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11211480	0.89[CEU][hapmap]
rs11211481	0.96[CEU][hapmap];0.85[GIH][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12057184	0.82[AMR][1000 genomes]
rs12083555	0.88[TSI][hapmap]
rs12141363	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144626	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12145836	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12407157	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1543502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2008713	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2984618	0.96[CEU][hapmap];0.87[GIH][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34087210	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4134058	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4926521	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4926524	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4926725	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4926726	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61782665	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658125	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6669341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6692253	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6695898	0.82[EUR][1000 genomes]
rs6700838	0.96[CEU][hapmap];0.85[GIH][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6701381	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs743270	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7525145	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7534271	0.96[CEU][hapmap];0.85[GIH][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765861	1.00[ASN][1000 genomes]
rs7664	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs911910	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs977747	0.96[CEU][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs741959	CMPK1	cis	lymphoblastoid	seeQTL
rs741959	LRRC41	cis	cerebellum	SCAN
rs741959	BEST4	cis	cerebellum	SCAN
rs741959	CYP4A11	cis	parietal	SCAN
rs741959	PDZK1IP1	cis	multi-tissue	Pritchard
rs741959	RP1-18D14.7	cis	Whole Blood	GTEx
rs741959	STIL	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47673400-47677600	Enhancers	HMEC	breast
2	chr1:47673600-47676600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:47674400-47677200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:47674400-47690600	Weak transcription	Gastric	stomach
5	chr1:47675000-47677200	Weak transcription	Spleen	Spleen
6	chr1:47675200-47676800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:47675400-47676400	Weak transcription	Right Atrium	heart
8	chr1:47675400-47677000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:47675400-47680000	Enhancers	HUVEC	blood vessel
10	chr1:47675600-47676400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:47675600-47676400	Enhancers	NHEK	skin
12	chr1:47675600-47677400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr1:47675800-47677400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:47675800-47680600	Enhancers	Primary hematopoietic stem cells	blood
15	chr1:47676000-47677800	Genic enhancers	K562	blood
16	chr1:47676000-47678200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:47676000-47678200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:47676200-47676400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
19	chr1:47676200-47676400	Enhancers	Lung	lung
20	chr1:47676200-47677200	Enhancers	Adipose Nuclei	Adipose
21	chr1:47676200-47677400	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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