Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17411217..17412789-chr11:17465893..17468748,2	MCF-7	breast:
2	chr11:17467958..17471223-chr11:17471420..17474458,3	K562	blood:

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

rs_ID	r²[population]
rs10766400	0.83[ASN][1000 genomes]
rs10832788	0.85[ASN][1000 genomes]
rs10832789	0.85[ASN][1000 genomes]
rs11024290	0.80[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs11821723	0.80[CHB][hapmap];0.82[ASN][1000 genomes]
rs12417170	0.80[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs12794627	0.83[ASN][1000 genomes]
rs17775256	0.80[CHB][hapmap];0.81[ASN][1000 genomes]
rs2040653	0.80[CHB][hapmap];0.82[ASN][1000 genomes]
rs2073587	0.85[ASN][1000 genomes]
rs2237967	0.96[CEU][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2237978	0.82[ASN][1000 genomes]
rs2237979	0.80[CHB][hapmap];0.82[ASN][1000 genomes]
rs2237980	0.85[ASN][1000 genomes]
rs2237981	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs2237982	0.80[CHB][hapmap];0.81[JPT][hapmap];0.80[MKK][hapmap];0.85[ASN][1000 genomes]
rs2237983	0.85[ASN][1000 genomes]
rs2283261	0.85[ASN][1000 genomes]
rs3781950	0.80[ASN][1000 genomes]
rs4459286	0.80[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs7117162	0.80[CHB][hapmap]
rs757109	0.80[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs7932043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7934185	0.86[ASN][1000 genomes]
rs7947326	0.80[CHB][hapmap];0.83[ASN][1000 genomes]
rs886292	0.80[CHB][hapmap];0.82[ASN][1000 genomes]

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	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7950189	ABCC8	cis	Thyroid	GTEx
rs7950189	ABCC8	cis	Nerve Tibial	GTEx
rs7950189	ABCC8	cis	Muscle Skeletal	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17456000-17469200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr11:17460800-17474000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:17461200-17497400	Weak transcription	Gastric	stomach
4	chr11:17464800-17472800	Weak transcription	Brain Anterior Caudate	brain
5	chr11:17465800-17469600	Weak transcription	Brain Germinal Matrix	brain
6	chr11:17465800-17481600	Weak transcription	Fetal Brain Female	brain
7	chr11:17465800-17496400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:17466000-17470000	Strong transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:17466200-17473600	Weak transcription	Brain Angular Gyrus	brain
10	chr11:17466600-17469800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:17467400-17478600	Weak transcription	Dnd41	blood

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