Variant report

No.	Distal block	Cell Line	Cell type
1	chr9:101125220..101129376-chr9:101135603..101141784,6	K562	blood:
2	chr9:101127682..101131370-chr9:101135028..101139404,5	K562	blood:
3	chr9:101123517..101127053-chr9:101127836..101130611,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10117265	1.00[CHB][hapmap]
rs10441752	1.00[CHB][hapmap]
rs10985425	1.00[CHB][hapmap]
rs10985528	1.00[CHB][hapmap]
rs10985573	1.00[CHB][hapmap]
rs12352986	1.00[CHB][hapmap]
rs16914199	1.00[CHB][hapmap]
rs16915689	1.00[CHB][hapmap]
rs17690174	1.00[CHB][hapmap]
rs497371	1.00[JPT][hapmap]
rs514993	0.82[GIH][hapmap];1.00[JPT][hapmap]
rs518655	1.00[JPT][hapmap]
rs552989	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs553139	1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.87[ASN][1000 genomes]
rs583115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs583641	1.00[JPT][hapmap]
rs625500	1.00[JPT][hapmap]
rs6478670	1.00[CHB][hapmap]
rs661105	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs661532	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs774342	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9299277	1.00[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	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv831664	chr9:101024862-101205637	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs644842	HIATL1	cis	parietal	SCAN
rs644842	BCHE	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101120600-101134400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr9:101126600-101142600	Weak transcription	Brain Angular Gyrus	brain
3	chr9:101127000-101128800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:101127400-101128600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr9:101127800-101134200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr9:101128200-101128600	Enhancers	HUVEC	blood vessel
7	chr9:101128200-101164200	Weak transcription	Brain Germinal Matrix	brain

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