Variant report

Variant	rs9943957
Chromosome Location	chr13:47989492-47989493
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 163 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:158)

rs_ID	r²[population]
rs10161665	1.00[ASN][1000 genomes]
rs10219892	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10219965	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10220186	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10220209	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10220222	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11841086	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11841823	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12184925	1.00[ASN][1000 genomes]
rs12385894	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1326480	0.87[EUR][1000 genomes]
rs13378192	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13378386	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13378508	1.00[ASN][1000 genomes]
rs13378925	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13378973	1.00[ASN][1000 genomes]
rs13379023	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1340345	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1340346	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1361457	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1417197	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1538798	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1538800	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1538804	0.82[CEU][hapmap]
rs1819681	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2153448	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2478310	0.92[EUR][1000 genomes]
rs2478311	0.92[EUR][1000 genomes]
rs2478313	0.84[EUR][1000 genomes]
rs2478338	0.92[EUR][1000 genomes]
rs2478339	0.92[EUR][1000 genomes]
rs2478340	0.92[EUR][1000 genomes]
rs2478341	0.92[EUR][1000 genomes]
rs2486999	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2487000	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2487001	0.83[EUR][1000 genomes]
rs2487007	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2503448	0.92[EUR][1000 genomes]
rs2503449	0.92[EUR][1000 genomes]
rs2503450	0.92[EUR][1000 genomes]
rs2503454	0.92[EUR][1000 genomes]
rs4296164	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4366617	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4411407	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4429188	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4525393	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4525394	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4570735	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4575434	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58200007	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59266213	1.00[ASN][1000 genomes]
rs6561381	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561382	0.86[EUR][1000 genomes]
rs6650372	1.00[ASN][1000 genomes]
rs73180354	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180356	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180359	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180360	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180361	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180362	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180363	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180365	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180367	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180372	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180373	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180374	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180375	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180376	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180378	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180379	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180380	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180382	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180383	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180384	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180385	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180386	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180387	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180388	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180391	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180392	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180393	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180394	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180395	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180397	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180398	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180399	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180400	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73182203	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73182204	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73182205	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73182207	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73182236	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73182238	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73182239	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73182274	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73182276	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73182277	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73182278	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183869	0.92[EUR][1000 genomes]
rs7319491	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7324575	1.00[ASN][1000 genomes]
rs7329677	1.00[ASN][1000 genomes]
rs7987645	1.00[ASN][1000 genomes]
rs9316297	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316300	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316301	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316303	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316304	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316305	0.86[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316306	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316313	1.00[ASN][1000 genomes]
rs9534646	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534647	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534648	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534649	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567866	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591038	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9591039	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9591041	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591050	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591051	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591056	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591057	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591063	1.00[ASN][1000 genomes]
rs9591065	1.00[ASN][1000 genomes]
rs9591066	1.00[ASN][1000 genomes]
rs9591068	1.00[ASN][1000 genomes]
rs9591071	1.00[ASN][1000 genomes]
rs9591075	1.00[ASN][1000 genomes]
rs9591076	1.00[ASN][1000 genomes]
rs9595659	0.92[EUR][1000 genomes]
rs9595660	0.86[EUR][1000 genomes]
rs9595662	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595666	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595667	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595668	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595671	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595672	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595673	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595674	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595675	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595686	1.00[ASN][1000 genomes]
rs9595687	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595688	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595691	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595709	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595711	1.00[ASN][1000 genomes]
rs9595712	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595713	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595714	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595716	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595720	1.00[ASN][1000 genomes]
rs9595728	1.00[ASN][1000 genomes]
rs9595732	1.00[ASN][1000 genomes]
rs9595733	1.00[ASN][1000 genomes]
rs9595738	1.00[ASN][1000 genomes]
rs9652163	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs997708	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv3394678	chr13:47678184-48039379	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:47983400-47990600	Weak transcription	NHDF-Ad	bronchial
2	chr13:47987400-47989800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:47987600-47989800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:47987600-47993400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:47988600-47990200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr13:47989000-47991000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr13:47989400-47989800	Enhancers	HMEC	breast

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