Variant report

Variant	rs1296513
Chromosome Location	chr10:91681344-91681345
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:91679148..91682138-chr10:91965404..91969772,3	MCF-7	breast:
2	chr10:91676756..91679132-chr10:91679594..91682574,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10509584	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10785919	0.83[EUR][1000 genomes]
rs10785927	1.00[ASN][1000 genomes]
rs10785930	1.00[ASN][1000 genomes]
rs10881718	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1111716	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1113984	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11185944	1.00[ASN][1000 genomes]
rs12413697	1.00[CHB][hapmap]
rs1274129	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274131	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274132	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274135	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274137	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1274139	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274140	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274141	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274142	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274172	1.00[ASN][1000 genomes]
rs1274174	1.00[ASN][1000 genomes]
rs1274177	1.00[ASN][1000 genomes]
rs1343365	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555825	1.00[ASN][1000 genomes]
rs1748492	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1748493	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1748495	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1777944	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1777945	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1777954	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1777955	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1954410	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2026553	1.00[CHB][hapmap]
rs2419351	1.00[ASN][1000 genomes]
rs2763324	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2763331	0.82[EUR][1000 genomes]
rs2763333	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2798613	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2798616	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2798618	0.84[EUR][1000 genomes]
rs2798620	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4272711	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4288675	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4301707	1.00[ASN][1000 genomes]
rs4933167	1.00[CHB][hapmap]
rs4933534	1.00[ASN][1000 genomes]
rs6583665	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6583667	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6583671	1.00[ASN][1000 genomes]
rs67801980	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67876331	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7092902	1.00[ASN][1000 genomes]
rs7094046	1.00[ASN][1000 genomes]
rs72820721	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72820722	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869080	chr10:91498641-91712834	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1036581	chr10:91526705-91691536	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1043571	chr10:91568555-92036154	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv551874	chr10:91570211-92036154	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv949678	chr10:91589048-92016474	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv895883	chr10:91610601-92195828	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1039731	chr10:91645718-92198264	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv540743	chr10:91645718-92198264	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv467430	chr10:91681344-92297943	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv551875	chr10:91681344-92297943	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1296513	CYP26C1	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91674400-91685200	Enhancers	HMEC	breast
2	chr10:91674400-91685400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr10:91678400-91683400	Weak transcription	Primary B cells from cord blood	blood
4	chr10:91679000-91684600	Enhancers	Hela-S3	cervix
5	chr10:91679000-91685200	Enhancers	NHEK	skin
6	chr10:91679600-91684600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:91679600-91685200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr10:91679800-91684600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:91680200-91682000	Enhancers	A549	lung
10	chr10:91680400-91681400	Enhancers	Esophagus	oesophagus
11	chr10:91680400-91682000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr10:91680600-91681400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr10:91680800-91681800	Weak transcription	Placenta	Placenta
14	chr10:91681200-91681400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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