Variant report

Variant	rs2478310
Chromosome Location	chr13:48093812-48093813
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 155 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:146)

rs_ID	r²[population]
rs10219892	0.92[EUR][1000 genomes]
rs10219965	0.97[EUR][1000 genomes]
rs10220186	0.92[EUR][1000 genomes]
rs10220209	0.97[EUR][1000 genomes]
rs10220222	0.97[EUR][1000 genomes]
rs11841086	0.97[EUR][1000 genomes]
rs11841823	0.97[EUR][1000 genomes]
rs12385894	0.92[EUR][1000 genomes]
rs1326480	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13378192	0.92[EUR][1000 genomes]
rs13378386	0.92[EUR][1000 genomes]
rs13378925	0.92[EUR][1000 genomes]
rs13379023	0.95[EUR][1000 genomes]
rs1340345	0.92[EUR][1000 genomes]
rs1340346	0.92[EUR][1000 genomes]
rs1359664	0.95[ASN][1000 genomes]
rs1359666	0.95[ASN][1000 genomes]
rs1361457	0.97[EUR][1000 genomes]
rs1417197	0.92[EUR][1000 genomes]
rs1538798	0.90[EUR][1000 genomes]
rs1538800	0.92[EUR][1000 genomes]
rs1547654	0.95[ASN][1000 genomes]
rs1571064	0.95[ASN][1000 genomes]
rs1575895	0.95[ASN][1000 genomes]
rs17070281	0.90[ASN][1000 genomes]
rs1819681	0.97[EUR][1000 genomes]
rs2153448	0.87[CEU][hapmap];0.97[EUR][1000 genomes]
rs2478311	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2478313	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2478317	0.95[ASN][1000 genomes]
rs2478334	0.90[ASN][1000 genomes]
rs2478335	0.95[ASN][1000 genomes]
rs2478336	0.95[ASN][1000 genomes]
rs2478338	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2478339	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2478340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2478341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2486999	0.92[EUR][1000 genomes]
rs2487000	0.97[EUR][1000 genomes]
rs2487001	0.86[EUR][1000 genomes]
rs2487007	0.97[EUR][1000 genomes]
rs2503428	0.90[ASN][1000 genomes]
rs2503443	0.95[ASN][1000 genomes]
rs2503448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2503449	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2503450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2503451	0.95[ASN][1000 genomes]
rs2503452	0.95[ASN][1000 genomes]
rs2503453	0.95[ASN][1000 genomes]
rs2503454	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4296164	0.92[EUR][1000 genomes]
rs4366617	0.97[EUR][1000 genomes]
rs4411407	0.92[EUR][1000 genomes]
rs4429188	0.97[EUR][1000 genomes]
rs4525393	0.92[EUR][1000 genomes]
rs4525394	0.92[EUR][1000 genomes]
rs4570735	0.97[EUR][1000 genomes]
rs4575434	0.92[EUR][1000 genomes]
rs4942645	0.82[AFR][1000 genomes]
rs58200007	0.97[EUR][1000 genomes]
rs6561381	0.87[EUR][1000 genomes]
rs73180354	0.92[EUR][1000 genomes]
rs73180356	0.92[EUR][1000 genomes]
rs73180359	0.92[EUR][1000 genomes]
rs73180360	0.92[EUR][1000 genomes]
rs73180361	0.92[EUR][1000 genomes]
rs73180362	0.92[EUR][1000 genomes]
rs73180363	0.92[EUR][1000 genomes]
rs73180365	0.92[EUR][1000 genomes]
rs73180367	0.92[EUR][1000 genomes]
rs73180372	0.92[EUR][1000 genomes]
rs73180373	0.92[EUR][1000 genomes]
rs73180374	0.92[EUR][1000 genomes]
rs73180375	0.92[EUR][1000 genomes]
rs73180376	0.92[EUR][1000 genomes]
rs73180378	0.92[EUR][1000 genomes]
rs73180379	0.92[EUR][1000 genomes]
rs73180380	0.92[EUR][1000 genomes]
rs73180382	0.92[EUR][1000 genomes]
rs73180383	0.92[EUR][1000 genomes]
rs73180384	0.92[EUR][1000 genomes]
rs73180385	0.92[EUR][1000 genomes]
rs73180386	0.92[EUR][1000 genomes]
rs73180387	0.92[EUR][1000 genomes]
rs73180388	0.92[EUR][1000 genomes]
rs73180391	0.92[EUR][1000 genomes]
rs73180392	0.92[EUR][1000 genomes]
rs73180393	0.92[EUR][1000 genomes]
rs73180394	0.92[EUR][1000 genomes]
rs73180395	0.92[EUR][1000 genomes]
rs73180397	0.92[EUR][1000 genomes]
rs73180398	0.92[EUR][1000 genomes]
rs73180399	0.92[EUR][1000 genomes]
rs73180400	0.92[EUR][1000 genomes]
rs73182203	0.92[EUR][1000 genomes]
rs73182204	0.92[EUR][1000 genomes]
rs73182205	0.92[EUR][1000 genomes]
rs73182207	0.92[EUR][1000 genomes]
rs73182236	0.92[EUR][1000 genomes]
rs73182238	0.92[EUR][1000 genomes]
rs73182239	0.92[EUR][1000 genomes]
rs73182274	0.92[EUR][1000 genomes]
rs73182276	0.92[EUR][1000 genomes]
rs73182277	0.92[EUR][1000 genomes]
rs73182278	0.92[EUR][1000 genomes]
rs73183869	1.00[EUR][1000 genomes]
rs7319491	0.92[EUR][1000 genomes]
rs9316297	0.92[EUR][1000 genomes]
rs9316300	0.92[EUR][1000 genomes]
rs9316301	0.92[EUR][1000 genomes]
rs9316303	0.87[CEU][hapmap];0.97[EUR][1000 genomes]
rs9316304	0.87[CEU][hapmap];0.97[EUR][1000 genomes]
rs9316305	0.97[EUR][1000 genomes]
rs9316306	0.97[EUR][1000 genomes]
rs9534646	0.92[EUR][1000 genomes]
rs9534647	0.92[EUR][1000 genomes]
rs9534648	0.92[EUR][1000 genomes]
rs9534649	0.92[EUR][1000 genomes]
rs9567866	0.97[EUR][1000 genomes]
rs9591038	0.90[EUR][1000 genomes]
rs9591039	0.90[EUR][1000 genomes]
rs9591041	0.92[EUR][1000 genomes]
rs9591050	0.92[EUR][1000 genomes]
rs9591056	0.92[EUR][1000 genomes]
rs9591057	0.97[EUR][1000 genomes]
rs9595659	0.85[EUR][1000 genomes]
rs9595662	0.92[EUR][1000 genomes]
rs9595666	0.92[EUR][1000 genomes]
rs9595667	0.92[EUR][1000 genomes]
rs9595668	0.92[EUR][1000 genomes]
rs9595671	0.92[EUR][1000 genomes]
rs9595672	0.92[EUR][1000 genomes]
rs9595673	0.92[EUR][1000 genomes]
rs9595674	0.92[EUR][1000 genomes]
rs9595675	0.92[EUR][1000 genomes]
rs9595687	0.92[EUR][1000 genomes]
rs9595688	0.92[EUR][1000 genomes]
rs9595691	0.92[EUR][1000 genomes]
rs9595709	0.92[EUR][1000 genomes]
rs9595712	0.87[CEU][hapmap];0.97[EUR][1000 genomes]
rs9595713	0.97[EUR][1000 genomes]
rs9595714	0.97[EUR][1000 genomes]
rs9595716	0.97[EUR][1000 genomes]
rs9652163	0.92[EUR][1000 genomes]
rs9943957	0.92[EUR][1000 genomes]
rs997708	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763019	chr13:47348229-48123447	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3450125	chr13:47919050-48236684	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv455879	chr13:47919611-48190106	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv561588	chr13:47943829-48190106	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1043543	chr13:48079517-48104782	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1041047	chr13:48081565-48104782	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1039986	chr13:48081565-48119960	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1043240	chr13:48082916-48119960	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1043473	chr13:48085526-48119960	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48089800-48097000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:48093600-48094400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr13:48093600-48094400	Enhancers	NHDF-Ad	bronchial
4	chr13:48093800-48094000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:48093800-48094400	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr13:48093800-48094600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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