Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39466500..39469411-chr14:39470961..39474073,3	K562	blood:
2	chr14:39467540..39469411-chr14:39470961..39473319,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10133362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10134654	0.83[EUR][1000 genomes]
rs10137988	0.83[EUR][1000 genomes]
rs10141471	0.84[EUR][1000 genomes]
rs10148623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12164875	0.89[CEU][hapmap];0.81[ASN][1000 genomes]
rs12437031	0.82[EUR][1000 genomes]
rs12878789	0.81[EUR][1000 genomes]
rs12889064	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12890771	0.83[EUR][1000 genomes]
rs17108728	0.83[EUR][1000 genomes]
rs17677562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2003740	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34673321	0.81[ASN][1000 genomes]
rs34702834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34875314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs532	0.86[CHB][hapmap]
rs8018842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs975521	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv564417	chr14:39452317-39535560	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4899137	TRAPPC6B	cis	multi-tissue	Pritchard

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39462200-39480400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr14:39463600-39476000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:39463600-39495200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr14:39463800-39473200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:39464200-39483000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:39464800-39492600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:39465000-39473800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr14:39465600-39498200	Weak transcription	NH-A	brain
9	chr14:39466000-39481000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:39466000-39483000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:39469200-39497400	Weak transcription	HSMM	muscle
12	chr14:39469600-39473000	Weak transcription	Adipose Nuclei	Adipose
13	chr14:39469600-39473400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr14:39470600-39474000	Active TSS	Right Atrium	heart
15	chr14:39472000-39473200	Active TSS	Right Ventricle	heart
16	chr14:39472200-39473200	Active TSS	Left Ventricle	heart

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