Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10959931..10962000-chr12:10963027..10965251,2	K562	blood:

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10743925	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10743926	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10772362	0.86[ASW][hapmap];0.84[YRI][hapmap]
rs10772365	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10845218	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10845219	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1548803	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1838344	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2588350	0.94[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs3741845	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3906863	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4262797	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4763216	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs615239	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs655046	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs689118	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049362	chr12:10893573-11018850	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv898776	chr12:10909412-11032045	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:34)

SNP	Gene	Cis/trans	Tissue	Source
rs1838346	TAS2R14	cis	cerebellum	SCAN
rs1838346	RP11-434C1.1	cis	Muscle Skeletal	GTEx
rs1838346	TAS2R9	cis	cerebellum	SCAN
rs1838346	PRR4	cis	lymphoblastoid	seeQTL
rs1838346	TAS2R13	cis	parietal	SCAN
rs1838346	PRH2	cis	cerebellum	SCAN
rs1838346	PRR4	cis	Muscle Skeletal	GTEx
rs1838346	PRR4	cis	Heart Left Ventricle	GTEx
rs1838346	TAS2R10	cis	cerebellum	SCAN
rs1838346	TAS2R46	cis	cerebellum	SCAN
rs1838346	TAS2R19	cis	cerebellum	SCAN
rs1838346	PRR4	cis	multi-tissue	Pritchard
rs1838346	PRR4	cis	cerebellum	SCAN
rs1838346	GNB3	cis	parietal	SCAN
rs1838346	PRR4	cis	lung	GTEx
rs1838346	TAS2R14	cis	parietal	SCAN
rs1838346	PRH1	cis	cerebellum	SCAN
rs1838346	RP11-434C1.1	cis	Artery Tibial	GTEx
rs1838346	PRR4	cis	Artery Tibial	GTEx
rs1838346	TAS2R20	cis	cerebellum	SCAN
rs1838346	RP11-785H5.1	cis	Thyroid	GTEx
rs1838346	TAS2R31	cis	cerebellum	SCAN
rs1838346	RP11-434C1.1	cis	lung	GTEx
rs1838346	TAS2R19	cis	parietal	SCAN
rs1838346	TAS2R31	cis	parietal	SCAN
rs1838346	TAS2R8	cis	cerebellum	SCAN
rs1838346	TAS2R14	cis	Artery Tibial	GTEx
rs1838346	TAS2R50	cis	parietal	SCAN
rs1838346	TAS2R13	cis	cerebellum	SCAN
rs1838346	TAS2R50	cis	cerebellum	SCAN
rs1838346	PRR4	cis	Thyroid	GTEx
rs1838346	GPR162	cis	parietal	SCAN
rs1838346	TAS2R14	cis	Esophagus Muscularis	GTEx
rs1838346	PRR4	cis	Esophagus Muscularis	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10960600-10961200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr12:10961000-10961400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:10961000-10961400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:10961000-10961800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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