Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr18:11747809-11748011	H1-hESC	embryonic stem cell:	n/a	n/a
2	JUND	chr18:11747850-11747896	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3A	chr18:11747787-11748117	H1-hESC	embryonic stem cell:	n/a	n/a
4	RFX5	chr18:11747791-11748050	H1-hESC	embryonic stem cell:	n/a	chr18:11747942-11747956 chr18:11747946-11747955 chr18:11747944-11747958 chr18:11747941-11747957 chr18:11747913-11747922

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11746215..11748757-chr18:11849880..11852912,3	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11873821	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1895689	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2052660	0.84[ASN][1000 genomes]
rs2052661	0.84[ASN][1000 genomes]
rs2113738	0.84[ASN][1000 genomes]
rs2113739	0.84[ASN][1000 genomes]
rs28415243	0.98[ASN][1000 genomes]
rs2866279	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs58518871	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6505671	0.90[ASN][1000 genomes]
rs6505674	0.83[ASN][1000 genomes]
rs7227416	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7233178	0.82[ASN][1000 genomes]
rs7359728	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8087001	0.96[ASN][1000 genomes]
rs8090628	0.84[ASN][1000 genomes]
rs8095592	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9951752	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9954406	0.90[ASN][1000 genomes]
rs9957006	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9957311	0.90[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	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1065382	chr18:11723230-11769732	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11743000-11749600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:11743200-11749600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:11745800-11748000	Enhancers	Fetal Brain Male	brain
4	chr18:11746400-11748200	Weak transcription	Fetal Brain Female	brain
5	chr18:11747400-11748000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:11747600-11748000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr18:11747600-11751200	Weak transcription	Brain Anterior Caudate	brain
8	chr18:11747800-11748000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr18:11747800-11748000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

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