Variant report

Variant	rs613450
Chromosome Location	chr11:49252010-49252011
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	chr11:49251863..49252437-chr11:49547367..49548407,3	MCF-7	breast:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10734597	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10742937	0.84[ASN][1000 genomes]
rs10769571	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10769573	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10839230	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10839248	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10839251	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10839253	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10839254	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10839255	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10839257	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11040261	0.81[ASN][1000 genomes]
rs11040289	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11040311	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11040322	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11822117	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11823826	0.91[ASN][1000 genomes]
rs11826051	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11827867	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12221758	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1851981	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1872610	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs191862	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2005014	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs202672	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs202673	0.81[ASN][1000 genomes]
rs202681	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs202687	0.84[ASN][1000 genomes]
rs202689	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs202695	0.85[ASN][1000 genomes]
rs202696	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs202698	0.84[ASN][1000 genomes]
rs202701	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs202705	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs202713	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs202719	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs202724	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2200497	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2866347	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2903253	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2931177	0.91[ASN][1000 genomes]
rs369803	0.85[ASN][1000 genomes]
rs3881244	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3881245	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4088771	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4303234	0.90[ASN][1000 genomes]
rs4373925	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs595139	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs596754	0.97[ASN][1000 genomes]
rs597683	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs600974	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs611931	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs613429	0.94[ASN][1000 genomes]
rs628194	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs636059	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6485971	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs648728	0.86[ASN][1000 genomes]
rs650826	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs651278	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs677785	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs689329	0.81[ASN][1000 genomes]
rs7101591	0.82[ASN][1000 genomes]
rs7103267	0.90[ASN][1000 genomes]
rs7103270	0.90[ASN][1000 genomes]
rs7106905	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7111262	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7114817	0.91[ASN][1000 genomes]
rs7115507	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7117025	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7118094	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7118378	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7118379	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7121968	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7122073	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7125691	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7131181	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7131190	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7131572	0.82[ASN][1000 genomes]
rs7481212	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7925859	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7935256	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469956	chr11:48922645-49862647	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv554347	chr11:49111467-49862647	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1044070	chr11:49147743-49448774	Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv525454	chr11:49156039-49570587	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv518571	chr11:49162948-49627833	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2758269	chr11:49212237-49468966	Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2759825	chr11:49212237-49468966	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv972016	chr11:49246163-49330536	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49245200-49254600	Weak transcription	Fetal Intestine Small	intestine
2	chr11:49251000-49252400	Enhancers	Brain Substantia Nigra	brain
3	chr11:49251800-49252400	Enhancers	Brain Angular Gyrus	brain
4	chr11:49251800-49252600	Enhancers	Brain Hippocampus Middle	brain
5	chr11:49252000-49252200	Enhancers	Fetal Brain Male	brain

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