Variant report

Variant	rs12331886
Chromosome Location	chr4:147033820-147033821
allele	C/T
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	SPI1	chr4:147033560-147033933	HL-60	blood:	n/a	chr4:147033740-147033753 chr4:147033855-147033868
2	BATF	chr4:147033602-147033873	GM12878	blood:	n/a	n/a
3	RUNX3	chr4:147033499-147033915	GM12878	blood:	n/a	n/a
4	SPI1	chr4:147033583-147033876	GM12878	blood:	n/a	chr4:147033740-147033753 chr4:147033855-147033868
5	SPI1	chr4:147033371-147034209	GM12878	blood:	n/a	chr4:147033740-147033753 chr4:147033855-147033868
6	ATF2	chr4:147033534-147033978	GM12878	blood:	n/a	n/a
7	SPI1	chr4:147033571-147033887	GM12878	blood:	n/a	chr4:147033740-147033753 chr4:147033855-147033868
8	NFIC	chr4:147033496-147033991	GM12878	blood:	n/a	n/a
9	SPI1	chr4:147033587-147033911	GM12891	blood:	n/a	chr4:147033740-147033753 chr4:147033855-147033868
10	NFIC	chr4:147033493-147033987	GM12878	blood:	n/a	n/a
11	SPI1	chr4:147033516-147033874	GM12891	blood:	n/a	chr4:147033740-147033753 chr4:147033855-147033868
12	MEF2A	chr4:147033557-147034008	GM12878	blood:	n/a	n/a
13	MEF2A	chr4:147033501-147034101	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:147033562..147035670-chr4:147039614..147042398,2	MCF-7	breast:

Variant related genes	Relation type
LINC01095	TF binding region
ENSG00000251024	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10017509	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10024190	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11100916	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11722991	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11731099	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11733512	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734297	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734320	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11931374	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12186313	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12331881	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12332062	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28691582	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3733461	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4076765	1.00[ASN][1000 genomes]
rs4835030	1.00[ASN][1000 genomes]
rs4835283	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835284	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72727909	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731517	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731518	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs731519	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731520	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9995546	0.97[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12331886	RP11-6L6.2	cis	Adipose Subcutaneous	GTEx
rs12331886	RP11-6L6.2	cis	Esophagus Muscularis	GTEx
rs12331886	RP11-6L6.2	cis	lung	GTEx
rs12331886	RP11-6L6.2	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147024600-147035000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr4:147030200-147034800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr4:147030800-147034400	Enhancers	Primary B cells from cord blood	blood
4	chr4:147031400-147034600	Enhancers	Primary B cells from peripheral blood	blood
5	chr4:147033000-147034000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:147033000-147035000	Weak transcription	Fetal Intestine Large	intestine
7	chr4:147033600-147034000	Weak transcription	Fetal Intestine Small	intestine
8	chr4:147033600-147034000	Active TSS	GM12878-XiMat	blood
9	chr4:147033800-147034200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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