Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:46237606-46238129	U87	brain:	n/a	n/a
2	IRF1	chr11:46237512-46238206	K562	blood:	n/a	chr11:46237700-46237721
3	HEY1	chr11:46237608-46237930	K562	blood:	n/a	n/a
4	CTCF	chr11:46237700-46237850	HBMEC	blood vessel:	n/a	n/a
5	IRF1	chr11:46237593-46237916	K562	blood:	n/a	chr11:46237700-46237721
6	POLR2A	chr11:46237578-46237985	U87	brain:	n/a	n/a
7	POLR2A	chr11:46237578-46237931	U87	brain:	n/a	n/a
8	POLR2A	chr11:46237640-46237983	K562	blood:	n/a	n/a
9	UBTF	chr11:46237702-46237843	K562	blood:	n/a	n/a
10	MAX	chr11:46237690-46237890	K562	blood:	n/a	n/a
11	POLR2A	chr11:46237606-46238135	U87	brain:	n/a	n/a
12	IRF1	chr11:46237552-46237931	K562	blood:	n/a	chr11:46237700-46237721

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46141379..46143279-chr11:46237350..46239276,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255269	TF binding region
ENSG00000135365	Chromatin interaction

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10838573	0.88[JPT][hapmap];0.86[MEX][hapmap]
rs10838578	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838579	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11038803	1.00[JPT][hapmap]
rs11038812	1.00[JPT][hapmap]
rs11038814	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11038815	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11038816	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12221745	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12793350	0.93[ASN][1000 genomes]
rs4756065	0.96[ASN][1000 genomes]
rs4756066	0.89[ASW][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.96[ASN][1000 genomes]
rs71474108	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs870498	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]

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	nsv1051344	chr11:46188818-46306447	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv541028	chr11:46188818-46306447	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4755349	MTCH2	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46236800-46237800	Enhancers	K562	blood
2	chr11:46236800-46238000	Enhancers	GM12878-XiMat	blood
3	chr11:46237400-46237800	Weak transcription	Colonic Mucosa	Colon
4	chr11:46237400-46238000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr11:46237600-46238000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:46237600-46238000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:46237600-46238000	Active TSS	Ovary	ovary
8	chr11:46237600-46238000	Active TSS	HSMMtube	muscle
9	chr11:46237600-46238200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:46237600-46238200	Active TSS	Muscle Satellite Cultured Cells	--
11	chr11:46237600-46238200	Active TSS	Duodenum Mucosa	Duodenum
12	chr11:46237600-46238200	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr11:46237600-46238200	Active TSS	Right Atrium	heart
14	chr11:46237600-46238200	Active TSS	NHLF	lung
15	chr11:46237600-46238400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:46237600-46238400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:46237600-46238400	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr11:46237600-46238400	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr11:46237600-46238400	Active TSS	Stomach Smooth Muscle	stomach
20	chr11:46237600-46238600	Enhancers	Cortex derived primary cultured neurospheres	brain

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