Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:180396502..180399490-chr2:180403575..180405915,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11884249	0.91[CHB][hapmap]
rs12471789	0.86[CHB][hapmap]
rs12620539	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13003114	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs13006274	0.81[CHB][hapmap]
rs13016735	0.90[CHB][hapmap]
rs13415364	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1400819	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs1400822	0.83[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16866761	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs17285077	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs17747516	0.91[CHB][hapmap]
rs2138877	0.91[CHB][hapmap]
rs2203739	0.84[ASN][1000 genomes]
rs2271759	0.81[CHB][hapmap]
rs4893875	0.86[CHB][hapmap]
rs4894100	0.81[CHB][hapmap]
rs6433794	0.84[CHB][hapmap];0.91[ASN][1000 genomes]
rs6708300	0.91[CHB][hapmap]
rs6715181	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6715297	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6718486	0.86[CHB][hapmap]
rs9288034	0.91[CHB][hapmap]

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	nsv875468	chr2:180352334-180396869	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv875469	chr2:180354642-180396869	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7563476	PRKRA	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180386600-180397600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:180391600-180397400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:180393600-180399400	Weak transcription	Psoas Muscle	Psoas
4	chr2:180393800-180396600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:180394000-180401200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:180394200-180397400	Weak transcription	HepG2	liver
7	chr2:180394800-180399400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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