Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9657185..9659878-chr11:9660285..9662259,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10743114	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10743115	0.96[EUR][1000 genomes]
rs10770047	0.81[TSI][hapmap]
rs10770052	0.87[ASN][1000 genomes]
rs10770053	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10840269	0.82[GIH][hapmap]
rs10840274	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs10840276	0.96[ASN][1000 genomes]
rs10840279	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10840281	0.81[ASN][1000 genomes]
rs11042452	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11042453	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12273601	0.81[CEU][hapmap];0.83[TSI][hapmap]
rs12361442	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1865558	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2060477	0.87[EUR][1000 genomes]
rs2082806	0.81[EUR][1000 genomes]
rs2082807	0.90[ASN][1000 genomes]
rs4910483	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7105378	0.85[EUR][1000 genomes]
rs7109585	0.85[EUR][1000 genomes]
rs7118466	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7118581	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs715333	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs737617	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7950021	0.97[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	nsv896986	chr11:9636854-9679145	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv972945	chr11:9660423-9684250	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11042454	SWAP70	cis	lymphoblastoid	seeQTL
rs11042454	CYB5R2	cis	parietal	SCAN
rs11042454	SWAP70	cis	multi-tissue	Pritchard
rs11042454	SWAP70	Cis_1M	lymphoblastoid	RTeQTL
rs11042454	SBF2	cis	lymphoblastoid	seeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9659400-9663200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:9660200-9661800	Enhancers	Primary B cells from cord blood	blood
3	chr11:9660200-9661800	Enhancers	Primary hematopoietic stem cells	blood
4	chr11:9660200-9661800	Enhancers	Duodenum Mucosa	Duodenum
5	chr11:9660200-9663000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr11:9660400-9661800	Enhancers	Fetal Intestine Large	intestine
7	chr11:9660400-9661800	Enhancers	HepG2	liver
8	chr11:9660400-9662600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:9660600-9661800	Enhancers	Fetal Intestine Small	intestine
10	chr11:9660600-9662800	Enhancers	Primary B cells from peripheral blood	blood
11	chr11:9660600-9662800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:9660600-9663000	Enhancers	Placenta	Placenta
13	chr11:9660600-9670400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:9660800-9661800	Enhancers	Primary T cells from cord blood	blood
15	chr11:9661200-9662600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr11:9661200-9665800	Weak transcription	Right Atrium	heart
17	chr11:9661200-9666200	Weak transcription	Lung	lung
18	chr11:9661600-9662600	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr11:9661600-9667600	Weak transcription	Spleen	Spleen

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