Variant report

Variant	rs314689
Chromosome Location	chr13:80010384-80010385
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:80008934..80011323-chr13:80013139..80015497,2	MCF-7	breast:

Extended variants
information (count: 130 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs12877507	0.87[ASN][1000 genomes]
rs1324868	0.87[ASN][1000 genomes]
rs1335368	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1335370	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1408049	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1414155	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1414156	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1577418	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1590465	0.87[ASN][1000 genomes]
rs1619669	0.84[ASN][1000 genomes]
rs1624537	0.89[ASN][1000 genomes]
rs1748761	0.89[ASN][1000 genomes]
rs1748762	0.89[ASN][1000 genomes]
rs1748763	0.89[ASN][1000 genomes]
rs1748769	0.89[ASN][1000 genomes]
rs1749982	0.84[ASN][1000 genomes]
rs1853830	0.89[ASN][1000 genomes]
rs1886494	0.87[ASN][1000 genomes]
rs1980764	0.85[ASN][1000 genomes]
rs2031815	0.86[ASN][1000 genomes]
rs2065743	0.81[AMR][1000 genomes]
rs2095477	0.85[ASN][1000 genomes]
rs2147568	0.89[ASN][1000 genomes]
rs2182009	0.87[ASN][1000 genomes]
rs2265377	0.89[ASN][1000 genomes]
rs2265378	0.89[ASN][1000 genomes]
rs2265381	0.89[ASN][1000 genomes]
rs2265382	0.89[ASN][1000 genomes]
rs2296287	0.89[ASN][1000 genomes]
rs2477395	0.89[ASN][1000 genomes]
rs2477397	0.89[ASN][1000 genomes]
rs2484345	0.89[ASN][1000 genomes]
rs2760101	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2760103	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2760106	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2763809	0.89[ASN][1000 genomes]
rs2763810	0.88[ASN][1000 genomes]
rs2765078	0.89[ASN][1000 genomes]
rs2783120	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2783121	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2783122	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2876740	0.89[ASN][1000 genomes]
rs314687	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs314688	0.81[ASN][1000 genomes]
rs314690	0.96[ASN][1000 genomes]
rs314692	0.89[ASN][1000 genomes]
rs314693	0.89[ASN][1000 genomes]
rs314694	0.89[ASN][1000 genomes]
rs314695	0.90[ASN][1000 genomes]
rs35476664	0.85[ASN][1000 genomes]
rs3742120	0.85[ASN][1000 genomes]
rs3742122	0.85[ASN][1000 genomes]
rs3764150	0.83[ASN][1000 genomes]
rs386603	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4145207	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs416660	0.89[ASN][1000 genomes]
rs418150	0.89[ASN][1000 genomes]
rs4476060	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4605023	0.87[ASN][1000 genomes]
rs4885633	0.81[ASN][1000 genomes]
rs4885636	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57821487	0.86[ASN][1000 genomes]
rs586219	0.89[ASN][1000 genomes]
rs643778	0.89[ASN][1000 genomes]
rs6563100	0.84[ASN][1000 genomes]
rs6563104	0.86[ASN][1000 genomes]
rs6563115	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs700396	0.85[AMR][1000 genomes]
rs7321186	0.85[ASN][1000 genomes]
rs7322901	0.85[ASN][1000 genomes]
rs7323246	0.86[ASN][1000 genomes]
rs7328494	0.87[ASN][1000 genomes]
rs7329331	0.86[ASN][1000 genomes]
rs7330479	0.86[ASN][1000 genomes]
rs7331525	0.90[ASN][1000 genomes]
rs7331766	0.86[ASN][1000 genomes]
rs7331867	0.85[ASN][1000 genomes]
rs7331872	0.87[ASN][1000 genomes]
rs7336186	0.87[ASN][1000 genomes]
rs7336581	0.87[ASN][1000 genomes]
rs7336939	0.85[ASN][1000 genomes]
rs7336979	0.90[ASN][1000 genomes]
rs7338678	0.88[ASN][1000 genomes]
rs7981500	0.86[ASN][1000 genomes]
rs7986306	0.81[ASN][1000 genomes]
rs7987193	0.90[ASN][1000 genomes]
rs7990321	0.89[ASN][1000 genomes]
rs7990344	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7996493	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8001281	0.89[ASN][1000 genomes]
rs8001308	0.82[ASN][1000 genomes]
rs8001622	0.89[ASN][1000 genomes]
rs8001795	0.89[ASN][1000 genomes]
rs8002838	0.89[ASN][1000 genomes]
rs912639	0.89[ASN][1000 genomes]
rs9318638	0.89[ASN][1000 genomes]
rs9318640	0.89[ASN][1000 genomes]
rs9318641	0.89[ASN][1000 genomes]
rs9530913	0.86[ASN][1000 genomes]
rs9530914	0.85[ASN][1000 genomes]
rs9530915	0.85[ASN][1000 genomes]
rs9530917	0.89[ASN][1000 genomes]
rs9530920	0.89[ASN][1000 genomes]
rs9530922	0.81[ASN][1000 genomes]
rs9545097	0.85[ASN][1000 genomes]
rs9545101	0.85[ASN][1000 genomes]
rs9545104	0.86[ASN][1000 genomes]
rs9545106	0.86[ASN][1000 genomes]
rs9545108	0.89[ASN][1000 genomes]
rs9545109	0.89[ASN][1000 genomes]
rs9545113	0.89[ASN][1000 genomes]
rs9545114	0.89[ASN][1000 genomes]
rs9565496	0.87[ASN][1000 genomes]
rs9565497	0.89[ASN][1000 genomes]
rs9565500	0.87[ASN][1000 genomes]
rs9565510	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9574416	0.87[ASN][1000 genomes]
rs9574418	0.85[ASN][1000 genomes]
rs9574419	0.87[ASN][1000 genomes]
rs9574420	0.87[ASN][1000 genomes]
rs9574422	0.89[ASN][1000 genomes]
rs9574429	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9574434	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9593396	0.84[ASN][1000 genomes]
rs9593399	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9601226	0.87[ASN][1000 genomes]
rs9601227	0.89[ASN][1000 genomes]
rs987284	0.86[AFR][1000 genomes];0.85[AMR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs314689	RBM26	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80008000-80010400	Enhancers	Osteobl	bone
2	chr13:80008800-80010400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr13:80009000-80010800	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr13:80009800-80013200	Weak transcription	Stomach Mucosa	stomach
5	chr13:80010000-80015400	Weak transcription	Hela-S3	cervix
6	chr13:80010200-80015200	Weak transcription	A549	lung
7	chr13:80010200-80025600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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