Variant report

No.	Distal block	Cell Line	Cell type
1	chr11:75067230..75070089-chr11:75082011..75083842,2	MCF-7	breast:
2	chr11:75061810..75065838-chr11:75066153..75069996,4	MCF-7	breast:
3	chr11:75060264..75064517-chr11:75067052..75070249,4	MCF-7	breast:
4	chr11:75065936..75068463-chr11:75068645..75070545,2	K562	blood:

Variant related genes	Relation type
ENSG00000137486	Chromatin interaction

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

rs_ID	r²[population]
rs12290249	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363921	0.83[EUR][1000 genomes]
rs2510894	0.89[CEU][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs3016302	0.83[EUR][1000 genomes]
rs473961	0.83[EUR][1000 genomes]
rs477837	0.81[CEU][hapmap]
rs506412	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs508798	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs509181	0.82[ASN][1000 genomes]
rs518115	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs519947	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs527106	0.82[CEU][hapmap]
rs539311	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs542784	0.92[CEU][hapmap]
rs555875	1.00[CEU][hapmap]
rs556355	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs582477	0.88[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646360	0.83[EUR][1000 genomes]
rs654079	0.82[EUR][1000 genomes]
rs658573	0.81[CEU][hapmap]
rs67783916	0.81[AMR][1000 genomes]
rs686020	0.83[EUR][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	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
3	nsv468637	chr11:75069871-75075866	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	nsv555445	chr11:75069871-75075866	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs677106	POLD3	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75063600-75076800	Weak transcription	Hela-S3	cervix
2	chr11:75064200-75086800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:75064600-75071800	Weak transcription	Primary B cells from cord blood	blood
4	chr11:75066600-75076000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:75067200-75076400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:75068800-75080800	Weak transcription	Spleen	Spleen
7	chr11:75069000-75071800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:75069800-75070000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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