Variant report

Variant	rs12083555
Chromosome Location	chr1:47703400-47703401
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47703389..47704925-chr1:47777568..47779831,2	K562	blood:

Variant related genes	Relation type
ENSG00000123473	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1015890	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10890472	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211479	0.95[ASN][1000 genomes]
rs11211481	0.93[GIH][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11211482	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12057184	0.83[AMR][1000 genomes]
rs12141363	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12144626	1.00[ASN][1000 genomes]
rs12407157	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1543502	1.00[ASN][1000 genomes]
rs1810658	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2008713	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2249636	0.94[ASW][hapmap];0.81[GIH][hapmap]
rs2250495	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs2984618	0.91[GIH][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34087210	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3737771	1.00[JPT][hapmap]
rs61782665	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6669341	1.00[ASN][1000 genomes]
rs6700838	0.93[GIH][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6701381	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72637985	0.81[ASN][1000 genomes]
rs7525145	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7534271	0.93[GIH][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7664	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911910	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs977747	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12083555	CYP4A11	cis	parietal	SCAN
rs12083555	CMPK1	cis	lymphoblastoid	seeQTL
rs12083555	RP1-18D14.7	cis	Whole Blood	GTEx
rs12083555	STIL	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47698200-47704400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr1:47698600-47703800	Enhancers	Primary hematopoietic stem cells	blood
3	chr1:47701200-47704000	Enhancers	HUVEC	blood vessel
4	chr1:47701400-47703400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:47701600-47705600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr1:47701800-47704800	Weak transcription	Spleen	Spleen
7	chr1:47701800-47705600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:47702000-47705800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:47702200-47704800	Weak transcription	Lung	lung
10	chr1:47702200-47707000	Weak transcription	Placenta	Placenta
11	chr1:47702400-47703400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:47703200-47703400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:47703200-47703600	Enhancers	Adipose Nuclei	Adipose
14	chr1:47703200-47703600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr1:47703200-47703800	Flanking Active TSS	K562	blood
16	chr1:47703400-47703600	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr1:47703400-47703600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr1:47703400-47703800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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