Variant report

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

rSNPs within LD-proxies of this variant (count:25)

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	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12057184	0.83[AMR][1000 genomes]
rs12083555	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2008713	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2250495	0.89[AFR][1000 genomes]
rs2984618	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34087210	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61782665	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6669341	1.00[ASN][1000 genomes]
rs6700838	0.87[AMR][1000 genomes];0.85[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	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7664	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911910	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs977747	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11211482	RP1-18D14.7	cis	Whole Blood	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47701600-47705600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr1:47701800-47704800	Weak transcription	Spleen	Spleen
3	chr1:47701800-47705600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:47702000-47705800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:47702200-47704800	Weak transcription	Lung	lung
6	chr1:47702200-47707000	Weak transcription	Placenta	Placenta
7	chr1:47703800-47705000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:47704000-47706800	Weak transcription	HUVEC	blood vessel
9	chr1:47704200-47705600	Enhancers	Primary hematopoietic stem cells	blood
10	chr1:47704400-47705600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:47704600-47705200	Flanking Active TSS	K562	blood
12	chr1:47704600-47705600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr1:47704600-47705600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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