Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76076405..76080634-chr13:76083700..76088829,4	K562	blood:
2	chr13:76075450..76077905-chr13:76087329..76089009,2	K562	blood:

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

rs_ID	r²[population]
rs13378810	1.00[ASW][hapmap]
rs2274047	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs2274048	1.00[ASW][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap]
rs2328949	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2328950	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4884005	0.84[ASN][1000 genomes]
rs55742020	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7332334	0.90[ASN][1000 genomes]
rs8192757	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs8192761	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs9530451	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs9530452	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs9543963	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9543964	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9543977	1.00[ASW][hapmap]
rs9543983	1.00[ASW][hapmap]
rs9543986	1.00[ASW][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap]
rs9543995	0.82[CHB][hapmap]
rs9544001	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs9544003	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs9544006	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs9573582	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs9593088	0.84[ASN][1000 genomes]
rs9593090	0.84[ASN][1000 genomes]
rs9600484	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9600487	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9652173	0.94[CHD][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv900562	chr13:76072743-76176680	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9600483	UCHL3	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76082600-76095400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:76085800-76088800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr13:76086600-76088600	Flanking Active TSS	GM12878-XiMat	blood
4	chr13:76088000-76088800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr13:76088000-76089000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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