Variant report

Variant	rs1531450
Chromosome Location	chr13:55476042-55476043
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11839135	1.00[EUR][1000 genomes]
rs12184758	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1462189	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1462191	0.84[EUR][1000 genomes]
rs1462202	0.95[EUR][1000 genomes]
rs1531451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1551834	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1599559	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2126418	0.95[EUR][1000 genomes]
rs2126419	0.85[EUR][1000 genomes]
rs2169477	0.85[AFR][1000 genomes]
rs2409555	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2409556	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs263809	0.83[EUR][1000 genomes]
rs263810	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs263824	0.95[EUR][1000 genomes]
rs263825	0.85[EUR][1000 genomes]
rs263831	0.95[EUR][1000 genomes]
rs263832	0.95[EUR][1000 genomes]
rs263833	0.85[EUR][1000 genomes]
rs2800657	0.85[EUR][1000 genomes]
rs420371	0.85[EUR][1000 genomes]
rs59443607	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6561803	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6561804	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6561805	1.00[EUR][1000 genomes]
rs7317573	1.00[EUR][1000 genomes]
rs7320026	1.00[EUR][1000 genomes]
rs73202867	0.96[EUR][1000 genomes]
rs73202894	0.98[EUR][1000 genomes]
rs73204603	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73204607	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73204610	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73204611	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73204613	0.98[EUR][1000 genomes]
rs73204615	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73204619	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73204620	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73204623	1.00[EUR][1000 genomes]
rs73204626	1.00[EUR][1000 genomes]
rs73204627	1.00[EUR][1000 genomes]
rs73204628	0.96[EUR][1000 genomes]
rs73204633	1.00[EUR][1000 genomes]
rs73204637	0.95[EUR][1000 genomes]
rs73204639	0.95[EUR][1000 genomes]
rs7321772	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7989867	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7991935	0.91[CEU][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap]
rs8000832	0.94[EUR][1000 genomes]
rs9316755	0.85[EUR][1000 genomes]
rs9527289	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9536881	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9536893	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9536917	0.88[EUR][1000 genomes]
rs9536926	0.95[EUR][1000 genomes]
rs9536927	0.85[EUR][1000 genomes]
rs9805429	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv561702	chr13:55086271-55808127	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1048599	chr13:55143426-55476042	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1051640	chr13:55143426-55478547	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv900096	chr13:55363417-55508485	Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv561704	chr13:55395253-55764633	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
6	nsv528493	chr13:55438905-55602402	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1051	chr13:55466546-55511292	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:55475600-55476600	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr13:55475800-55476200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr13:55475800-55476400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr13:55475800-55476600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:55475800-55476600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr13:55476000-55476600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr13:55476000-55476600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr13:55476000-55476800	Enhancers	HUES64 Cell Line	embryonic stem cell

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