Variant report

Variant	rs6846743
Chromosome Location	chr4:79863721-79863722
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:79863669-79863901	ECC-1	luminal epithelium:	n/a	n/a
2	SPI1	chr4:79863657-79864166	HL-60	blood:	n/a	n/a
3	CEBPB	chr4:79863591-79863976	K562	blood:	n/a	n/a
4	CEBPB	chr4:79863664-79863912	HepG2	liver:	n/a	n/a
5	CEBPB	chr4:79863666-79863859	K562	blood:	n/a	n/a
6	ZNF384	chr4:79863642-79864018	K562	blood:	n/a	n/a
7	CEBPB	chr4:79863670-79863942	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr4:79863644-79863949	HL-60	blood:	n/a	n/a
9	CEBPB	chr4:79863638-79863914	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr4:79863628-79863933	K562	blood:	n/a	n/a
11	SPI1	chr4:79863624-79863974	HL-60	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79859950..79862790-chr4:79863259..79866666,3	K562	blood:
2	chr4:79862625..79864770-chr4:79868680..79870409,2	K562	blood:

No data

Variant related genes	Relation type
PAQR3	TF binding region
ENSG00000163291	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10018189	0.85[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs10023100	0.82[ASN][1000 genomes]
rs10025599	0.85[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs10034295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11722437	0.91[ASN][1000 genomes]
rs1275045	0.85[ASN][1000 genomes]
rs1275046	0.85[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs1275047	0.85[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs13108247	0.85[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs1383425	0.87[ASN][1000 genomes]
rs1383426	0.85[ASN][1000 genomes]
rs1480718	0.90[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs1480733	0.87[ASN][1000 genomes]
rs1825022	0.87[ASN][1000 genomes]
rs1979444	0.85[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs2046104	0.92[ASN][1000 genomes]
rs2288254	0.85[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs3822106	0.85[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs3937772	0.94[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs4512020	0.85[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs4576033	0.87[ASN][1000 genomes]
rs62308043	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6534083	0.85[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs6534085	0.90[ASN][1000 genomes]
rs6534086	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6534087	0.90[ASN][1000 genomes]
rs6534090	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs6854347	0.85[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs725500	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7656083	0.90[ASN][1000 genomes]
rs7688534	0.85[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs931149	0.91[ASN][1000 genomes]
rs931150	0.91[ASN][1000 genomes]
rs9993426	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879504	chr4:79759796-79874275	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv829979	chr4:79819168-80019159	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1000907	chr4:79838948-80224764	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79860800-79864200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:79861600-79864000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:79861600-79864200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:79863000-79865200	Weak transcription	K562	blood
5	chr4:79863200-79865400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr4:79863200-79865600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr4:79863600-79864200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr4:79863600-79865200	Weak transcription	Fetal Intestine Small	intestine

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