Variant report

Variant	rs386603
Chromosome Location	chr13:80029868-80029869
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs1022891	0.81[MEX][hapmap]
rs1212082	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs12865187	0.88[JPT][hapmap]
rs12871015	0.82[GIH][hapmap];0.88[JPT][hapmap]
rs12877507	0.88[JPT][hapmap]
rs1324868	0.88[JPT][hapmap];0.95[MEX][hapmap]
rs1335368	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1335370	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1408049	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1408658	0.88[JPT][hapmap]
rs1409018	0.88[JPT][hapmap]
rs1410336	0.88[JPT][hapmap]
rs1414155	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1414156	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1475797	0.88[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs1577416	0.88[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs1577418	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1748761	0.94[JPT][hapmap]
rs1748768	0.86[JPT][hapmap]
rs1752648	0.88[JPT][hapmap]
rs1752649	0.88[JPT][hapmap]
rs1853830	0.89[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap]
rs2025913	0.88[JPT][hapmap]
rs2057573	0.82[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap]
rs2065743	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2181433	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2182009	0.88[JPT][hapmap]
rs2182010	0.88[JPT][hapmap]
rs2182873	0.88[JPT][hapmap]
rs2265377	1.00[JPT][hapmap]
rs2265378	0.94[JPT][hapmap]
rs2274555	0.88[JPT][hapmap]
rs2484344	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2760101	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2760102	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs2760103	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2760105	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs2760106	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2763809	0.94[JPT][hapmap]
rs2763810	0.89[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap]
rs2783119	0.88[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2783120	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2783121	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2783122	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2876740	0.89[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap]
rs314687	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs314688	0.95[ASN][1000 genomes]
rs314689	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs314690	0.84[ASN][1000 genomes]
rs3187338	0.82[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap]
rs3742117	0.86[JPT][hapmap]
rs3742118	0.88[JPT][hapmap]
rs3742119	0.88[JPT][hapmap]
rs3742122	0.88[JPT][hapmap]
rs3752994	0.88[JPT][hapmap]
rs3818563	0.82[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap]
rs3903388	0.88[JPT][hapmap]
rs4145207	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4146473	0.88[JPT][hapmap];0.95[MEX][hapmap]
rs4476060	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4885633	0.93[ASN][1000 genomes]
rs4885634	0.81[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs4885636	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs643778	0.94[JPT][hapmap]
rs6563098	0.82[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap]
rs6563100	0.82[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap]
rs6563104	0.88[JPT][hapmap]
rs6563110	0.87[ASN][1000 genomes]
rs6563113	0.88[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs6563115	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6563116	0.81[ASN][1000 genomes]
rs700396	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7317343	0.88[JPT][hapmap]
rs7317416	0.88[JPT][hapmap]
rs7319252	0.88[JPT][hapmap]
rs7319320	0.88[JPT][hapmap]
rs7321953	0.82[ASN][1000 genomes]
rs7322167	0.88[JPT][hapmap]
rs7322673	0.88[JPT][hapmap]
rs7325095	0.90[ASN][1000 genomes]
rs7327386	0.88[JPT][hapmap]
rs7327603	0.88[JPT][hapmap]
rs7328494	1.00[JPT][hapmap]
rs7329331	0.89[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap]
rs7331872	0.88[JPT][hapmap]
rs7332367	0.82[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap]
rs7332913	0.82[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap]
rs7336581	0.86[GIH][hapmap];0.88[JPT][hapmap];0.90[MEX][hapmap]
rs7338530	0.88[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs7339303	0.88[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs7981067	0.82[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap]
rs7982263	0.85[ASN][1000 genomes]
rs7987193	0.94[JPT][hapmap]
rs7987769	0.88[JPT][hapmap]
rs7988601	0.87[ASN][1000 genomes]
rs7988784	0.88[JPT][hapmap]
rs7990250	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7990344	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7996493	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7996652	0.88[JPT][hapmap]
rs7998837	0.88[JPT][hapmap]
rs8001281	0.94[JPT][hapmap]
rs8002042	0.88[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs912639	0.89[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap]
rs9318621	0.88[JPT][hapmap]
rs9318623	0.87[JPT][hapmap]
rs9318625	0.88[JPT][hapmap]
rs9318626	0.88[JPT][hapmap]
rs9318627	0.88[JPT][hapmap]
rs9318634	0.87[JPT][hapmap]
rs9318640	0.93[JPT][hapmap]
rs9318641	0.94[JPT][hapmap]
rs9318644	0.82[ASN][1000 genomes]
rs9530899	0.86[JPT][hapmap]
rs9530901	0.82[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap]
rs9530913	0.88[JPT][hapmap]
rs9530914	0.88[JPT][hapmap]
rs9530922	0.93[ASN][1000 genomes]
rs9530925	0.85[ASN][1000 genomes]
rs9545065	0.88[JPT][hapmap]
rs9545066	0.84[JPT][hapmap]
rs9545067	0.88[JPT][hapmap]
rs9545076	0.84[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap]
rs9545083	0.88[JPT][hapmap]
rs9545085	0.88[JPT][hapmap]
rs9545086	0.87[JPT][hapmap]
rs9545087	0.88[JPT][hapmap]
rs9545097	0.87[JPT][hapmap]
rs9545101	0.88[JPT][hapmap]
rs9565486	0.88[JPT][hapmap]
rs9565489	0.88[JPT][hapmap]
rs9565497	0.94[JPT][hapmap]
rs9565510	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9574409	0.88[JPT][hapmap]
rs9574416	0.88[JPT][hapmap]
rs9574422	0.94[JPT][hapmap]
rs9574429	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9574434	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9593396	0.88[JPT][hapmap]
rs9593399	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs987284	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[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	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs386603	RBM26	Cis_1M	lymphoblastoid	RTeQTL
rs386603	RP11-25J23.3	cis	Thyroid	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80020600-80034000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:80026200-80030000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:80026400-80031400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:80026400-80031600	Weak transcription	HUVEC	blood vessel
5	chr13:80026600-80032000	Weak transcription	K562	blood
6	chr13:80026800-80030000	Weak transcription	HSMMtube	muscle
7	chr13:80026800-80030000	Weak transcription	NH-A	brain
8	chr13:80026800-80033600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:80027000-80030000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr13:80027000-80031200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:80027000-80031800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:80027200-80032200	Weak transcription	Dnd41	blood
13	chr13:80027400-80032800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr13:80028000-80032000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr13:80029000-80032400	Enhancers	Osteobl	bone
16	chr13:80029200-80030400	Enhancers	Placenta	Placenta
17	chr13:80029600-80030000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr13:80029800-80030400	Enhancers	HSMM	muscle

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