Variant report

Variant	rs4504922
Chromosome Location	chr1:172334818-172334819
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	STAT3	chr1:172334738-172335196	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RNU6-157P	TF binding region

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1011731	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1023479	0.89[ASW][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.93[MEX][hapmap];0.96[MKK][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10489284	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10752943	0.94[ASN][1000 genomes]
rs10752944	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10797996	0.95[ASN][1000 genomes]
rs10911654	1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10911681	0.93[ASN][1000 genomes]
rs10911684	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12404665	0.95[ASN][1000 genomes]
rs12405515	0.89[ASN][1000 genomes]
rs1894633	0.80[ASN][1000 genomes]
rs2001127	0.92[ASN][1000 genomes]
rs2001128	0.92[ASN][1000 genomes]
rs2001129	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2032528	0.82[JPT][hapmap]
rs2213731	0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2213732	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2227198	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2227199	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2227200	0.94[ASN][1000 genomes]
rs2269612	0.95[ASN][1000 genomes]
rs2301453	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3213564	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3768445	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.85[MKK][hapmap];0.95[ASN][1000 genomes]
rs4471302	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4916251	0.94[ASW][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.93[MEX][hapmap];0.97[MKK][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4916252	0.95[ASN][1000 genomes]
rs4916253	0.92[ASN][1000 genomes]
rs4916254	0.85[ASN][1000 genomes]
rs4916263	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs4916264	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs4916265	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs6424894	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6676665	0.94[ASW][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.93[MEX][hapmap];0.97[MKK][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6698987	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6700575	0.93[ASN][1000 genomes]
rs714515	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs73046851	0.82[ASN][1000 genomes]
rs7517737	0.95[ASN][1000 genomes]
rs7518039	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7534393	0.90[CHB][hapmap]
rs7539464	0.92[ASN][1000 genomes]
rs7539972	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7544610	0.95[ASN][1000 genomes]
rs7546252	0.92[ASN][1000 genomes]
rs9286854	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9425269	1.00[JPT][hapmap]
rs9425297	0.90[ASN][1000 genomes]
rs9425298	0.92[ASN][1000 genomes]
rs9425299	0.92[ASN][1000 genomes]
rs9425300	0.92[ASN][1000 genomes]
rs9425301	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9425573	0.80[ASN][1000 genomes]
rs9425575	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9425579	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9425586	0.94[ASW][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.93[MEX][hapmap];0.96[MKK][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9425587	0.95[ASN][1000 genomes]
rs9425589	0.95[ASN][1000 genomes]
rs9425590	0.89[ASN][1000 genomes]
rs9425591	0.92[ASN][1000 genomes]
rs9425592	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9425628	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs979935	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs991790	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4504922	MYOC	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172330400-172336600	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:172330400-172343000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:172331000-172336400	Weak transcription	Small Intestine	intestine
4	chr1:172331200-172347200	Weak transcription	Fetal Kidney	kidney
5	chr1:172334200-172335000	Weak transcription	Osteobl	bone
6	chr1:172334200-172335200	Weak transcription	Aorta	Aorta
7	chr1:172334800-172338600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links