Variant report

Variant	rs12513198
Chromosome Location	chr4:166282004-166282005
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	GATA1	chr4:166281357-166282062	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:166276597..166279121-chr4:166279967..166282162,2	K562	blood:
2	chr4:166279563..166282339-chr4:166287037..166289622,2	MCF-7	breast:

Variant related genes	Relation type
CPE	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11100606	0.85[ASN][1000 genomes]
rs11944875	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12498302	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12501589	1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12502374	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12503472	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12509710	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12512757	0.81[ASN][1000 genomes]
rs12641145	0.86[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs12642246	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13113058	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13113441	0.82[ASN][1000 genomes]
rs13123297	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13151882	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1347744	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1370683	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1438112	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17624714	0.83[ASN][1000 genomes]
rs17686529	0.80[GIH][hapmap]
rs17686668	0.83[ASN][1000 genomes]
rs35411578	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4621390	0.81[ASN][1000 genomes]
rs4690812	0.81[ASN][1000 genomes]
rs6827346	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs875486	0.89[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	esv1847399	chr4:166259587-166284836	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12513198	CPE	cis	parietal	SCAN
rs12513198	SNORD96A	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166277600-166285400	Weak transcription	HepG2	liver
2	chr4:166278200-166282800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr4:166280200-166284800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:166280400-166282400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:166281000-166282600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:166281600-166285400	Weak transcription	HMEC	breast
7	chr4:166281600-166285800	Weak transcription	Hela-S3	cervix
8	chr4:166281800-166282800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr4:166281800-166284800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links