Variant report

Variant	rs2476172
Chromosome Location	chr13:80150959-80150960
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1208049	0.86[ASN][1000 genomes]
rs1212082	0.86[ASN][1000 genomes]
rs1335368	0.81[ASN][1000 genomes]
rs1408049	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1414155	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1414156	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1475797	0.83[ASN][1000 genomes]
rs1577416	0.83[ASN][1000 genomes]
rs2065743	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2181433	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2476173	0.86[ASN][1000 genomes]
rs2484343	0.86[ASN][1000 genomes]
rs2484344	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2760101	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2760102	0.86[ASN][1000 genomes]
rs2760103	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2760105	0.85[ASN][1000 genomes]
rs2760106	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2783119	0.85[ASN][1000 genomes]
rs2783120	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2783121	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2783122	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2783125	0.91[ASN][1000 genomes]
rs2783126	0.91[ASN][1000 genomes]
rs2783127	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4885634	0.81[ASN][1000 genomes]
rs4885636	0.81[ASN][1000 genomes]
rs6563113	0.81[ASN][1000 genomes]
rs6563115	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6563116	0.83[ASN][1000 genomes]
rs700396	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7321953	0.85[ASN][1000 genomes]
rs73235963	0.86[ASN][1000 genomes]
rs7339303	0.85[ASN][1000 genomes]
rs7982263	0.80[ASN][1000 genomes]
rs8002042	0.81[ASN][1000 genomes]
rs9318644	0.85[ASN][1000 genomes]
rs9530925	0.81[ASN][1000 genomes]
rs9545142	0.89[ASN][1000 genomes]
rs9565510	0.82[ASN][1000 genomes]
rs9574434	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9601240	0.86[ASN][1000 genomes]
rs9601242	0.86[ASN][1000 genomes]
rs987284	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1041994	chr13:80123596-80247708	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2476172	RBM26	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80140600-80155800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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