Variant report

Variant	rs2484345
Chromosome Location	chr13:80002048-80002049
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:79998349..80000455-chr13:80001277..80003996,2	K562	blood:

Extended variants
information (count: 206 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:204)

rs_ID	r²[population]
rs1022891	0.81[JPT][hapmap]
rs11620233	0.83[ASN][1000 genomes]
rs1208049	0.83[AMR][1000 genomes]
rs1212082	0.84[CEU][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes]
rs12865187	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12871015	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12877507	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs1324868	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs1335368	0.88[JPT][hapmap]
rs1335370	0.88[JPT][hapmap]
rs1408049	0.87[JPT][hapmap]
rs1408658	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1409018	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1410336	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1475797	0.92[CEU][hapmap];0.80[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1577416	0.89[CEU][hapmap];0.80[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes]
rs1577418	0.88[JPT][hapmap]
rs1590465	0.95[ASN][1000 genomes]
rs1616547	0.84[ASN][1000 genomes]
rs1619669	0.92[ASN][1000 genomes]
rs1624537	0.99[ASN][1000 genomes]
rs17071512	1.00[YRI][hapmap]
rs17071545	1.00[YRI][hapmap]
rs1748761	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1748762	0.98[ASN][1000 genomes]
rs1748763	0.98[ASN][1000 genomes]
rs1748768	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs1748769	0.99[ASN][1000 genomes]
rs1749982	0.92[ASN][1000 genomes]
rs1752648	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1752649	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1853830	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1886494	0.95[ASN][1000 genomes]
rs1980764	0.91[ASN][1000 genomes]
rs2025913	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2031815	0.95[ASN][1000 genomes]
rs2057573	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2095477	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2147568	0.99[ASN][1000 genomes]
rs2182009	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs2182010	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2182873	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2265377	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2265378	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2265381	0.99[ASN][1000 genomes]
rs2265382	0.99[ASN][1000 genomes]
rs2274555	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2296287	0.98[ASN][1000 genomes]
rs2476173	0.83[AMR][1000 genomes]
rs2477395	0.99[ASN][1000 genomes]
rs2477397	0.99[ASN][1000 genomes]
rs2484343	0.83[AMR][1000 genomes]
rs2760102	0.88[CEU][hapmap];0.80[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes]
rs2760105	0.84[CEU][hapmap];0.80[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap]
rs2760106	0.87[JPT][hapmap]
rs2763809	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2763810	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2765078	0.99[ASN][1000 genomes]
rs2783119	0.89[CEU][hapmap];0.80[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2783121	0.88[JPT][hapmap]
rs2783122	0.87[JPT][hapmap]
rs2783125	0.81[AMR][1000 genomes]
rs2783126	0.81[AMR][1000 genomes]
rs2876740	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs314688	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs314689	0.89[ASN][1000 genomes]
rs314690	0.93[ASN][1000 genomes]
rs314692	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs314693	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs314694	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs314695	0.98[ASN][1000 genomes]
rs3187338	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs35476664	0.91[ASN][1000 genomes]
rs3742117	0.93[CHB][hapmap];0.93[JPT][hapmap]
rs3742118	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs3742119	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs3742120	0.96[ASN][1000 genomes]
rs3742122	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs3752994	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs3764150	0.88[ASN][1000 genomes]
rs3818563	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs3903388	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs4146473	1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs416660	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs418150	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4605023	0.95[ASN][1000 genomes]
rs4885633	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4885634	0.81[CEU][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4885636	0.88[JPT][hapmap]
rs57821487	0.95[ASN][1000 genomes]
rs586219	1.00[ASN][1000 genomes]
rs643778	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6563098	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs6563100	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs6563104	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs6563110	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6563113	0.89[CEU][hapmap];0.80[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes]
rs6563116	0.81[AMR][1000 genomes]
rs7317343	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7317416	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7319252	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7319320	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7321186	0.95[ASN][1000 genomes]
rs7321953	0.83[AMR][1000 genomes]
rs7322167	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7322673	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7322901	0.95[ASN][1000 genomes]
rs7323246	0.95[ASN][1000 genomes]
rs73235963	0.83[AMR][1000 genomes]
rs7325095	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7327386	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7327603	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs7328494	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7329331	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs7330479	0.95[ASN][1000 genomes]
rs7331525	0.98[ASN][1000 genomes]
rs7331766	0.95[ASN][1000 genomes]
rs7331867	0.93[ASN][1000 genomes]
rs7331872	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs7332367	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7332913	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs7336186	0.95[ASN][1000 genomes]
rs7336581	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs7336939	0.93[ASN][1000 genomes]
rs7336979	0.98[ASN][1000 genomes]
rs7338530	0.91[CEU][hapmap];0.80[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7338678	0.95[ASN][1000 genomes]
rs7339303	0.89[CEU][hapmap];0.80[CHB][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes]
rs7981067	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7981500	0.95[ASN][1000 genomes]
rs7982263	0.87[AMR][1000 genomes]
rs7986306	0.88[ASN][1000 genomes]
rs7987193	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7987769	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7988601	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7988784	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7990321	0.99[ASN][1000 genomes]
rs7990344	0.85[JPT][hapmap]
rs7996652	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7998837	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs8001281	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs8001308	0.91[ASN][1000 genomes]
rs8001392	0.85[ASN][1000 genomes]
rs8001622	0.99[ASN][1000 genomes]
rs8001795	1.00[ASN][1000 genomes]
rs8002042	0.89[CEU][hapmap];0.80[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes]
rs8002838	1.00[ASN][1000 genomes]
rs912639	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9318621	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9318623	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs9318625	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9318626	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs9318627	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs9318634	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs9318638	0.99[ASN][1000 genomes]
rs9318640	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9318641	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9318644	0.83[AMR][1000 genomes]
rs9530899	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs9530901	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9530913	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs9530914	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs9530915	0.94[ASN][1000 genomes]
rs9530917	0.99[ASN][1000 genomes]
rs9530920	1.00[ASN][1000 genomes]
rs9530922	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9530925	0.88[AMR][1000 genomes]
rs9545065	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9545066	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs9545067	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9545076	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9545083	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9545085	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9545086	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9545087	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs9545097	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9545101	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9545104	0.95[ASN][1000 genomes]
rs9545106	0.95[ASN][1000 genomes]
rs9545108	1.00[ASN][1000 genomes]
rs9545109	0.99[ASN][1000 genomes]
rs9545113	1.00[ASN][1000 genomes]
rs9545114	1.00[ASN][1000 genomes]
rs9545142	0.81[AMR][1000 genomes]
rs9565486	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9565489	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9565496	0.95[ASN][1000 genomes]
rs9565497	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9565500	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9565510	0.87[JPT][hapmap]
rs9574409	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9574413	1.00[YRI][hapmap]
rs9574416	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs9574418	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9574419	0.95[ASN][1000 genomes]
rs9574420	0.95[ASN][1000 genomes]
rs9574422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9574434	0.88[JPT][hapmap]
rs9593396	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9601226	0.95[ASN][1000 genomes]
rs9601227	0.99[ASN][1000 genomes]
rs9601240	0.83[AMR][1000 genomes]
rs9601242	0.83[AMR][1000 genomes]
rs987284	0.87[JPT][hapmap]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2484345	RBM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79980800-80007200	Weak transcription	Spleen	Spleen
2	chr13:79981000-80007200	Weak transcription	Aorta	Aorta
3	chr13:79981200-80010200	Weak transcription	Right Ventricle	heart
4	chr13:79982600-80006400	Weak transcription	Gastric	stomach
5	chr13:79983600-80003400	Weak transcription	GM12878-XiMat	blood
6	chr13:79998800-80006000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:80001000-80002600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:80001000-80003600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:80001400-80002800	Enhancers	Dnd41	blood
10	chr13:80001800-80009000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr13:80002000-80002400	Enhancers	Muscle Satellite Cultured Cells	--

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