Variant report

Variant	rs9591041
Chromosome Location	chr13:47999427-47999428
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	chr13:47998849..48000404-chr13:48002509..48005061,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10219892	1.00[EUR][1000 genomes]
rs10219965	0.95[EUR][1000 genomes]
rs10220186	1.00[EUR][1000 genomes]
rs10220209	0.95[EUR][1000 genomes]
rs10220222	0.95[EUR][1000 genomes]
rs11841086	0.95[EUR][1000 genomes]
rs11841823	0.95[EUR][1000 genomes]
rs12385894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1326480	0.87[EUR][1000 genomes]
rs13378192	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13378386	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13378925	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13379023	0.92[EUR][1000 genomes]
rs1340345	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1340346	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1361457	0.95[EUR][1000 genomes]
rs1417197	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1538798	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1538800	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1538804	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs1819681	0.95[EUR][1000 genomes]
rs2153448	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][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]
rs2487000	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2487001	0.83[EUR][1000 genomes]
rs2487007	0.95[EUR][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]
rs4366617	0.95[EUR][1000 genomes]
rs4411407	1.00[EUR][1000 genomes]
rs4429188	0.95[EUR][1000 genomes]
rs4525393	1.00[EUR][1000 genomes]
rs4525394	1.00[EUR][1000 genomes]
rs4570735	0.95[EUR][1000 genomes]
rs4575434	1.00[EUR][1000 genomes]
rs58200007	0.95[EUR][1000 genomes]
rs6561381	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6561382	0.86[EUR][1000 genomes]
rs73180354	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180356	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180361	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180363	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180365	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180372	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180376	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180384	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180385	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180386	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180387	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180388	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180391	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180392	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180393	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180394	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180395	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180397	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180398	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180399	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180400	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73182203	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73182204	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73182205	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73182207	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73182236	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73182238	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73182239	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73182274	1.00[EUR][1000 genomes]
rs73182276	1.00[EUR][1000 genomes]
rs73182277	1.00[EUR][1000 genomes]
rs73182278	1.00[EUR][1000 genomes]
rs73183869	0.92[EUR][1000 genomes]
rs7319491	1.00[EUR][1000 genomes]
rs9316297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316300	1.00[EUR][1000 genomes]
rs9316301	1.00[EUR][1000 genomes]
rs9316303	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9316304	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9316305	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs9316306	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9534646	1.00[EUR][1000 genomes]
rs9534647	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9534648	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9534649	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9567866	0.95[EUR][1000 genomes]
rs9591038	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9591039	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9591050	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591051	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9591056	1.00[EUR][1000 genomes]
rs9591057	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9595659	0.92[EUR][1000 genomes]
rs9595660	0.86[EUR][1000 genomes]
rs9595662	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595666	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595673	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595674	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595687	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595688	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595691	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595709	1.00[EUR][1000 genomes]
rs9595712	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs9595713	0.95[EUR][1000 genomes]
rs9595714	0.95[EUR][1000 genomes]
rs9595716	0.95[EUR][1000 genomes]
rs9652163	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9943957	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs997708	0.83[AMR][1000 genomes];1.00[EUR][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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:47995000-48000200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr13:47995000-48000400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:47995800-48000200	Weak transcription	Adipose Nuclei	Adipose
4	chr13:47995800-48000400	Weak transcription	Liver	Liver
5	chr13:47996400-48000200	Weak transcription	NHDF-Ad	bronchial
6	chr13:47996400-48000400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr13:47997000-47999800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:47998800-47999800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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