Variant report

Variant	rs314690
Chromosome Location	chr13:80008957-80008958
allele	C/T
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: 189 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:187)

rs_ID	r²[population]
rs1212082	1.00[CHB][hapmap];0.82[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap]
rs12865187	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs12871015	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs12877507	0.81[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs1324868	0.81[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs1335368	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs1335370	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs1408049	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs1408658	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs1409018	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs1410336	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs1475797	1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap]
rs1577416	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1577418	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs1590465	0.87[ASN][1000 genomes]
rs1619669	0.87[ASN][1000 genomes]
rs1624537	0.92[ASN][1000 genomes]
rs1748761	0.80[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs1748762	0.91[ASN][1000 genomes]
rs1748763	0.91[ASN][1000 genomes]
rs1748768	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs1748769	0.92[ASN][1000 genomes]
rs1749982	0.87[ASN][1000 genomes]
rs1752648	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs1752649	0.88[JPT][hapmap]
rs1853830	0.81[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs1886494	0.87[ASN][1000 genomes]
rs1980764	0.86[ASN][1000 genomes]
rs2025913	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2031815	0.88[ASN][1000 genomes]
rs2057573	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2095477	0.89[ASN][1000 genomes]
rs2147568	0.92[ASN][1000 genomes]
rs2182009	0.81[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs2182010	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2182873	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2265377	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2265378	0.81[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2265381	0.92[ASN][1000 genomes]
rs2265382	0.92[ASN][1000 genomes]
rs2274555	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2296287	0.91[ASN][1000 genomes]
rs2477395	0.92[ASN][1000 genomes]
rs2477397	0.92[ASN][1000 genomes]
rs2484345	0.93[ASN][1000 genomes]
rs2760102	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2760105	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2760106	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs2763809	0.80[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs2763810	0.81[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs2765078	0.92[ASN][1000 genomes]
rs2783119	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2783121	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs2783122	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs2876740	0.81[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs314687	0.82[ASN][1000 genomes]
rs314688	0.85[ASN][1000 genomes]
rs314689	0.96[ASN][1000 genomes]
rs314692	0.93[ASN][1000 genomes]
rs314693	0.93[ASN][1000 genomes]
rs314694	0.93[ASN][1000 genomes]
rs314695	0.91[ASN][1000 genomes]
rs3187338	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs35476664	0.86[ASN][1000 genomes]
rs3742117	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs3742118	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs3742119	0.81[CHB][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap]
rs3742120	0.89[ASN][1000 genomes]
rs3742122	0.81[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs3752994	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs3764150	0.83[ASN][1000 genomes]
rs3818563	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs386603	0.84[ASN][1000 genomes]
rs3903388	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs4146473	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs416660	0.93[ASN][1000 genomes]
rs418150	0.93[ASN][1000 genomes]
rs4476060	0.82[ASN][1000 genomes]
rs4605023	0.87[ASN][1000 genomes]
rs4885633	0.85[ASN][1000 genomes]
rs4885634	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs4885636	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs57821487	0.88[ASN][1000 genomes]
rs586219	0.93[ASN][1000 genomes]
rs643778	0.81[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs6563098	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs6563100	0.81[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs6563104	0.81[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs6563113	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7317343	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs7317416	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs7319252	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs7319320	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs7321186	0.87[ASN][1000 genomes]
rs7322167	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs7322673	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs7322901	0.87[ASN][1000 genomes]
rs7323246	0.88[ASN][1000 genomes]
rs7325095	0.83[ASN][1000 genomes]
rs7327386	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs7327603	0.88[JPT][hapmap]
rs7328494	0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7329331	0.81[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs7330479	0.88[ASN][1000 genomes]
rs7331525	0.91[ASN][1000 genomes]
rs7331766	0.88[ASN][1000 genomes]
rs7331867	0.86[ASN][1000 genomes]
rs7331872	0.81[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs7332367	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs7332913	0.88[JPT][hapmap]
rs7336186	0.87[ASN][1000 genomes]
rs7336581	0.81[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs7336939	0.86[ASN][1000 genomes]
rs7336979	0.91[ASN][1000 genomes]
rs7338530	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs7338678	0.88[ASN][1000 genomes]
rs7339303	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7981067	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs7981500	0.88[ASN][1000 genomes]
rs7986306	0.83[ASN][1000 genomes]
rs7987193	0.80[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs7987769	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs7988784	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs7990321	0.92[ASN][1000 genomes]
rs7990344	0.93[CHB][hapmap];0.93[JPT][hapmap]
rs7996652	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs7998837	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs8001281	0.80[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs8001308	0.84[ASN][1000 genomes]
rs8001622	0.92[ASN][1000 genomes]
rs8001795	0.93[ASN][1000 genomes]
rs8002042	1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AFR][1000 genomes]
rs8002838	0.93[ASN][1000 genomes]
rs912639	0.81[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs9318621	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs9318623	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs9318625	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs9318626	0.81[CHB][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap]
rs9318627	0.81[CHB][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap]
rs9318634	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs9318638	0.92[ASN][1000 genomes]
rs9318640	0.81[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs9318641	0.81[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs9530899	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs9530901	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs9530913	0.81[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs9530914	0.81[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs9530915	0.87[ASN][1000 genomes]
rs9530917	0.92[ASN][1000 genomes]
rs9530920	0.93[ASN][1000 genomes]
rs9530922	0.85[ASN][1000 genomes]
rs9545065	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs9545066	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs9545067	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs9545076	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs9545077	1.00[ASW][hapmap]
rs9545083	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs9545085	0.88[JPT][hapmap]
rs9545086	0.87[JPT][hapmap]
rs9545087	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs9545097	0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs9545101	0.81[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs9545104	0.88[ASN][1000 genomes]
rs9545106	0.88[ASN][1000 genomes]
rs9545108	0.93[ASN][1000 genomes]
rs9545109	0.92[ASN][1000 genomes]
rs9545113	0.93[ASN][1000 genomes]
rs9545114	0.93[ASN][1000 genomes]
rs9565486	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs9565489	0.88[JPT][hapmap]
rs9565496	0.87[ASN][1000 genomes]
rs9565497	0.81[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs9565500	0.91[ASN][1000 genomes]
rs9565510	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs9574409	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs9574416	0.81[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs9574418	0.89[ASN][1000 genomes]
rs9574419	0.87[ASN][1000 genomes]
rs9574420	0.87[ASN][1000 genomes]
rs9574422	0.80[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs9574429	0.82[ASN][1000 genomes]
rs9574434	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs9593396	0.81[CHB][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs9593399	0.82[ASN][1000 genomes]
rs9601226	0.87[ASN][1000 genomes]
rs9601227	0.92[ASN][1000 genomes]
rs987284	0.82[CHB][hapmap];0.94[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs314690	RBM26	cis	cerebellum	SCAN
rs314690	RBM26	Cis_1M	lymphoblastoid	RTeQTL
rs314690	RP11-25J23.3	cis	Thyroid	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79981200-80010200	Weak transcription	Right Ventricle	heart
2	chr13:80001800-80009000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:80003200-80009200	Weak transcription	Fetal Heart	heart
4	chr13:80006400-80009000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr13:80007400-80009800	Weak transcription	Fetal Intestine Small	intestine
6	chr13:80008000-80009200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr13:80008000-80010000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:80008000-80010000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:80008000-80010000	Enhancers	Hela-S3	cervix
10	chr13:80008000-80010400	Enhancers	Osteobl	bone
11	chr13:80008400-80009800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:80008400-80009800	Enhancers	NHDF-Ad	bronchial
13	chr13:80008400-80010200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:80008600-80010000	Enhancers	NH-A	brain
15	chr13:80008600-80010200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:80008600-80010200	Enhancers	HSMM	muscle
17	chr13:80008600-80010200	Enhancers	HSMMtube	muscle
18	chr13:80008800-80009800	Enhancers	Stomach Mucosa	stomach
19	chr13:80008800-80010400	Enhancers	Muscle Satellite Cultured Cells	--

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