Variant report

Variant	rs2484343
Chromosome Location	chr13:80137722-80137723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs1208049	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1212082	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12877507	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs1324868	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs1335368	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1335370	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1408049	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1414155	0.96[ASN][1000 genomes]
rs1414156	0.96[ASN][1000 genomes]
rs1475797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1577416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1577418	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1748761	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs1853830	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2065743	0.94[ASN][1000 genomes]
rs2181433	0.85[ASN][1000 genomes]
rs2182009	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs2182010	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs2265377	0.80[CHB][hapmap];0.93[JPT][hapmap]
rs2265378	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2476172	0.86[ASN][1000 genomes]
rs2476173	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2484344	0.86[ASN][1000 genomes]
rs2484345	0.83[AMR][1000 genomes]
rs2760101	0.97[ASN][1000 genomes]
rs2760102	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]
rs2760103	0.91[ASN][1000 genomes]
rs2760105	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2760106	0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2763809	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs2763810	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2783119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2783120	0.92[ASN][1000 genomes]
rs2783121	0.81[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2783122	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2783125	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2783126	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2783127	0.80[ASN][1000 genomes]
rs2876740	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs314688	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3742122	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs4145207	0.89[ASN][1000 genomes]
rs4146473	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs4476060	0.81[ASN][1000 genomes]
rs4885633	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4885634	0.93[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4885636	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs643778	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs6563100	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs6563104	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs6563110	0.81[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6563113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6563115	0.92[ASN][1000 genomes]
rs6563116	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs700396	0.95[ASN][1000 genomes]
rs7319252	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs7321953	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73235963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7325095	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7327603	0.82[JPT][hapmap]
rs7328494	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs7329331	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs7331872	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs7336581	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs7338530	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7339303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7982263	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7987193	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs7988601	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7990344	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7996493	0.87[ASN][1000 genomes]
rs8001281	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs8002042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs912639	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs9318634	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs9318640	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs9318641	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs9318644	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9530913	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs9530914	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs9530922	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9530925	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9545085	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs9545086	0.89[CEU][hapmap];0.82[JPT][hapmap]
rs9545087	0.89[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap]
rs9545097	0.89[CEU][hapmap];0.87[JPT][hapmap]
rs9545101	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs9545142	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9565497	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs9565510	0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9574416	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs9574422	0.89[CEU][hapmap];0.80[CHB][hapmap];0.88[JPT][hapmap]
rs9574429	0.81[ASN][1000 genomes]
rs9574434	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9593396	0.92[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap]
rs9593399	0.81[ASN][1000 genomes]
rs9601240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9601242	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs987284	0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2484343	RBM26	Cis_1M	lymphoblastoid	RTeQTL
rs2484343	RP11-25J23.3	cis	Thyroid	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80134000-80138800	Weak transcription	Left Ventricle	heart
2	chr13:80135600-80147200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:80137000-80138000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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