Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210728277..210730776-chr1:210738043..210739547,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11119541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584633	0.89[CEU][hapmap]
rs11585911	0.84[CEU][hapmap]
rs11808209	0.84[CEU][hapmap]
rs12022165	0.85[CHD][hapmap]
rs12034950	0.85[CHB][hapmap]
rs12072976	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12079415	0.84[CHB][hapmap];0.80[ASN][1000 genomes]
rs12136768	0.85[CEU][hapmap]
rs1343876	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs17016393	0.85[CHB][hapmap]
rs17016397	0.89[CHB][hapmap]
rs17016400	0.85[CHB][hapmap];0.90[CHD][hapmap];0.80[ASN][1000 genomes]
rs4844531	1.00[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs4845048	0.85[CHB][hapmap]
rs4845049	0.85[CHB][hapmap]
rs4845052	0.95[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs4845053	0.90[CHB][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs6659137	0.85[CEU][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs6685262	0.88[CEU][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv549106	chr1:210698719-210736508	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1011702	chr1:210706323-210739030	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1003105	chr1:210717288-210739030	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1014480	chr1:210717288-210743026	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12040304	LOC642587	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210680600-210731000	Weak transcription	HSMM	muscle
2	chr1:210715600-210730800	Weak transcription	HSMMtube	muscle
3	chr1:210722000-210731800	Weak transcription	Right Ventricle	heart
4	chr1:210728000-210731200	Weak transcription	Gastric	stomach
5	chr1:210729600-210730600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:210729800-210730000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:210729800-210730200	Enhancers	K562	blood
8	chr1:210729800-210730800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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