Variant report

Variant	rs2678793
Chromosome Location	chr18:28292472-28292473
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr18:28292273-28292755	GM12878	blood:	n/a	chr18:28292557-28292571 chr18:28292661-28292671
2	SPI1	chr18:28292343-28292739	HL-60	blood:	n/a	chr18:28292560-28292573 chr18:28292559-28292572 chr18:28292561-28292570
3	ZNF384	chr18:28292251-28292681	GM12878	blood:	n/a	n/a
4	IRF4	chr18:28292384-28292700	GM12878	blood:	n/a	n/a
5	SPI1	chr18:28292446-28292800	HL-60	blood:	n/a	chr18:28292560-28292573 chr18:28292559-28292572 chr18:28292561-28292570
6	MAFF	chr18:28292365-28292532	HepG2	liver:	n/a	chr18:28292426-28292444
7	SPI1	chr18:28292425-28292651	GM12878	blood:	n/a	chr18:28292560-28292573 chr18:28292559-28292572 chr18:28292561-28292570
8	CUX1	chr18:28292411-28292678	GM12878	blood:	n/a	n/a
9	RFX5	chr18:28292402-28292689	GM12878	blood:	n/a	n/a
10	SPI1	chr18:28292384-28292700	GM12891	blood:	n/a	chr18:28292560-28292573 chr18:28292559-28292572 chr18:28292561-28292570
11	REST	chr18:28292362-28292699	Hela-S3	cervix:	n/a	chr18:28292673-28292682
12	CHD2	chr18:28292424-28292759	GM12878	blood:	n/a	n/a
13	RCOR1	chr18:28292297-28292759	GM12878	blood:	n/a	n/a
14	EP300	chr18:28292229-28292755	GM12878	blood:	n/a	chr18:28292557-28292571 chr18:28292661-28292671
15	BHLHE40	chr18:28292205-28292773	GM12878	blood:	n/a	n/a
16	TCF12	chr18:28292451-28292617	GM12878	blood:	n/a	n/a
17	SPI1	chr18:28292209-28293052	GM12878	blood:	n/a	chr18:28292560-28292573 chr18:28292559-28292572 chr18:28292561-28292570
18	SPI1	chr18:28292404-28292664	K562	blood:	n/a	chr18:28292560-28292573 chr18:28292559-28292572 chr18:28292561-28292570
19	SPI1	chr18:28292307-28292812	GM12891	blood:	n/a	chr18:28292560-28292573 chr18:28292559-28292572 chr18:28292561-28292570
20	BCL11A	chr18:28292451-28292688	GM12878	blood:	n/a	n/a
21	SPI1	chr18:28292424-28292647	K562	blood:	n/a	chr18:28292560-28292573 chr18:28292559-28292572 chr18:28292561-28292570
22	EBF1	chr18:28292292-28292731	GM12878	blood:	n/a	n/a
23	MXI1	chr18:28292408-28292638	GM12878	blood:	n/a	n/a
24	TCF12	chr18:28292452-28292693	GM12878	blood:	n/a	n/a
25	SPI1	chr18:28292336-28292762	GM12878	blood:	n/a	chr18:28292560-28292573 chr18:28292559-28292572 chr18:28292561-28292570
26	STAT3	chr18:28291968-28292533	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000266196	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12455551	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1893691	0.94[EUR][1000 genomes]
rs1943556	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1943561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1943563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1943564	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1943565	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1943568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1943569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1943570	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1943571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1943572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1943573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1970694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2027734	0.88[EUR][1000 genomes]
rs2226847	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2678795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2678797	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2678798	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2678799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2678800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2678802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2733128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs2733129	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2850282	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2850283	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2850285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7234719	0.81[EUR][1000 genomes]
rs8098019	0.93[EUR][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	nsv428675	chr18:28278505-28444515	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28292400-28293600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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