Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:147185541..147187437-chr6:147534820..147537621,2	K562	blood:

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

rs_ID	r²[population]
rs1119876	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1122570	0.92[ASW][hapmap];0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1324683	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1324685	0.88[CEU][hapmap];0.82[AMR][1000 genomes]
rs1467623	0.87[CHD][hapmap];0.81[JPT][hapmap]
rs1924693	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2224906	0.84[CEU][hapmap]
rs2328769	0.92[CEU][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3818410	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926192	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6937015	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7755795	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs877660	0.81[JPT][hapmap]
rs912580	0.81[JPT][hapmap]
rs912581	0.92[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs927672	0.88[CEU][hapmap];0.84[CHB][hapmap]
rs9377033	0.89[CEU][hapmap]
rs9386175	0.82[CEU][hapmap]
rs9390437	0.85[ASW][hapmap];0.92[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9403826	0.85[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830838	chr6:147090745-147274669	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1543548	KATNA1	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147179600-147192200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:147182200-147197600	Weak transcription	Pancreas	Pancrea
3	chr6:147182800-147193000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:147183000-147187200	Enhancers	K562	blood
5	chr6:147184400-147188600	Weak transcription	Liver	Liver
6	chr6:147185400-147192000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr6:147185800-147191200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:147186000-147186400	Enhancers	Esophagus	oesophagus
9	chr6:147186000-147186400	Enhancers	Fetal Muscle Leg	muscle
10	chr6:147186000-147187200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:147186000-147191400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:147186200-147186600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr6:147186200-147191600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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