Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr16:71599950-71600601	GM12878	blood:	n/a	n/a
2	ZNF384	chr16:71600122-71600589	GM12878	blood:	n/a	n/a
3	NFIC	chr16:71599147-71600569	GM12878	blood:	n/a	n/a
4	SPI1	chr16:71599847-71600545	GM12878	blood:	n/a	n/a
5	RCOR1	chr16:71599833-71600603	GM12878	blood:	n/a	n/a
6	STAT3	chr16:71600057-71600620	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:71598139..71600865-chr16:71657563..71661455,3	MCF-7	breast:
2	chr16:71600353..71602131-chr16:71603528..71605411,2	K562	blood:
3	chr16:71598954..71602131-chr16:71602948..71606674,3	K562	blood:

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4149499	0.85[GIH][hapmap];0.81[AMR][1000 genomes]
rs55676788	1.00[AFR][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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3794689	IFI44L	trans	brain	seeQTL
rs3794689	STAT1	trans	brain	seeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71599400-71601800	Weak transcription	Esophagus	oesophagus
2	chr16:71599600-71600600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr16:71599600-71600600	Flanking Active TSS	GM12878-XiMat	blood
4	chr16:71599600-71600800	Enhancers	Liver	Liver
5	chr16:71599600-71602000	Weak transcription	Right Atrium	heart
6	chr16:71599600-71605600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr16:71599600-71607800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr16:71599800-71600600	Enhancers	Fetal Intestine Large	intestine
9	chr16:71599800-71600600	Enhancers	Fetal Intestine Small	intestine
10	chr16:71599800-71600600	Enhancers	Fetal Lung	lung
11	chr16:71599800-71601800	Weak transcription	Lung	lung
12	chr16:71599800-71602400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr16:71600000-71600600	Enhancers	A549	lung
14	chr16:71600000-71600600	Enhancers	K562	blood
15	chr16:71600000-71600800	Enhancers	HepG2	liver
16	chr16:71600000-71601200	Enhancers	Primary B cells from peripheral blood	blood
17	chr16:71600200-71600600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr16:71600200-71602600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr16:71600400-71600600	Active TSS	Colonic Mucosa	Colon
20	chr16:71600400-71600800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr16:71600400-71601600	Enhancers	Primary B cells from cord blood	blood
22	chr16:71600400-71604000	Weak transcription	Rectal Mucosa Donor 29	rectum

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