Variant report

Variant	rs2408547
Chromosome Location	chr13:52626643-52626644
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	chr13:52618736..52621348-chr13:52625262..52627911,2	K562	blood:

Extended variants
information (count: 139 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs1004576	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1055062	0.96[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1060631	0.96[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1134727	0.94[ASN][1000 genomes]
rs11620583	0.82[CHB][hapmap]
rs12146904	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12431310	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs12560598	0.94[ASN][1000 genomes]
rs1571189	0.96[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1801243	0.86[CHB][hapmap]
rs1886538	0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1886539	0.93[ASN][1000 genomes]
rs1886542	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1886543	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1886544	0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1886545	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1886546	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1886547	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs1924611	0.82[CHB][hapmap]
rs2004866	0.86[CHB][hapmap]
rs2005182	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2147359	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2147360	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2181891	0.86[CHB][hapmap]
rs2274202	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2277448	0.96[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2296347	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2296348	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2296349	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2408544	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs2408546	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2408548	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2408550	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2408551	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2408552	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2408554	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2408609	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2408611	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2897964	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2897965	0.91[ASN][1000 genomes]
rs2897977	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs3368	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs3742289	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3742291	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3783242	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3818422	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3825528	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs4261421	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4264295	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4297592	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs4497567	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4600369	0.82[ASN][1000 genomes]
rs4941720	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4941723	0.81[ASN][1000 genomes]
rs4941727	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs4943060	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61958804	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61958805	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6561656	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6561658	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs6650384	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6650385	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66849828	0.90[ASN][1000 genomes]
rs7318287	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7319784	0.92[ASN][1000 genomes]
rs7320252	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7320429	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732071	0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7320831	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7321120	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7321310	0.92[ASN][1000 genomes]
rs7321435	0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7321775	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7324458	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7327634	0.86[CHB][hapmap]
rs7332356	0.95[ASN][1000 genomes]
rs7338131	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs747781	0.86[CHB][hapmap]
rs755363	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs7981904	0.96[CHB][hapmap];0.95[JPT][hapmap]
rs7991237	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs7995946	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs7998770	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7998985	0.83[EUR][1000 genomes]
rs9316563	0.83[CHB][hapmap]
rs9526817	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9526819	0.82[CHB][hapmap]
rs9526823	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9526825	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9526826	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526834	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9526835	0.91[ASN][1000 genomes]
rs9526836	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9526837	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs9526841	0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9526842	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs9526843	0.93[ASN][1000 genomes]
rs9535812	0.86[CHB][hapmap]
rs9535813	0.82[ASN][1000 genomes]
rs9535816	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9535821	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9535822	0.81[CHB][hapmap]
rs9535824	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9535825	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs9535826	0.82[CHB][hapmap]
rs9535832	0.86[CHB][hapmap]
rs9535836	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs9535845	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535851	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs9535853	0.95[ASN][1000 genomes]
rs9535856	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs9535858	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs9535861	0.86[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs9535862	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs9535866	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs9535867	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9535871	0.90[ASN][1000 genomes]
rs9535873	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9535878	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs9535879	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs9535880	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs9535882	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs9535883	0.86[ASN][1000 genomes]
rs9535885	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs9535887	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs9535888	0.82[ASN][1000 genomes]
rs9535889	0.88[ASN][1000 genomes]
rs9563089	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs9568682	0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9568684	0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9568692	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568713	0.86[CHB][hapmap];0.82[JPT][hapmap]

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	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv900082	chr13:52555288-52709938	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52600400-52627600	Weak transcription	HSMMtube	muscle
2	chr13:52623800-52628000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr13:52625400-52626800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr13:52626000-52627600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr13:52626600-52627600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr13:52626600-52627800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr13:52626600-52627800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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