Variant report

Variant	rs62199048
Chromosome Location	chr2:187005494-187005495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10167916	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10169303	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10169495	0.96[EUR][1000 genomes]
rs10170460	1.00[ASN][1000 genomes]
rs10172385	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175904	0.81[AMR][1000 genomes]
rs10177674	1.00[EUR][1000 genomes]
rs10178380	1.00[ASN][1000 genomes]
rs10188935	1.00[ASN][1000 genomes]
rs10190643	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10194279	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10195894	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196464	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199503	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199590	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201678	1.00[ASN][1000 genomes]
rs10202753	1.00[ASN][1000 genomes]
rs10202978	1.00[ASN][1000 genomes]
rs10206032	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206285	1.00[ASN][1000 genomes]
rs10208050	1.00[ASN][1000 genomes]
rs10208364	1.00[ASN][1000 genomes]
rs10208438	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10208476	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13384032	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13390957	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13398061	0.81[AMR][1000 genomes]
rs13403627	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13413555	1.00[ASN][1000 genomes]
rs13414293	1.00[ASN][1000 genomes]
rs13417380	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13418456	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13421890	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13423512	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13424471	1.00[ASN][1000 genomes]
rs13430022	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28804162	0.81[AMR][1000 genomes]
rs34468721	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36103051	1.00[ASN][1000 genomes]
rs55908314	0.81[AMR][1000 genomes]
rs60597870	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197162	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62197163	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62197188	1.00[ASN][1000 genomes]
rs62197192	1.00[AMR][1000 genomes]
rs62197196	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62197200	1.00[ASN][1000 genomes]
rs62197201	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62197202	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62197203	1.00[ASN][1000 genomes]
rs62197214	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62197216	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62197217	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62197218	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62197222	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62197223	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62197225	1.00[AMR][1000 genomes]
rs62197226	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62197227	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62197253	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62197255	1.00[ASN][1000 genomes]
rs62197257	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62198560	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62198604	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62198605	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62198978	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198988	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62199016	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62199017	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62199018	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62199020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62199022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62199023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62199039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62199040	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62199047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73981042	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73981045	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875545	chr2:186566024-187280164	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv817325	chr2:186625679-187200841	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv868949	chr2:186657142-187327560	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1002243	chr2:186692815-187150225	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv536077	chr2:186692815-187150225	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv932296	chr2:186737443-187265790	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv875547	chr2:186798249-187014815	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv875548	chr2:186798249-187164657	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1003369	chr2:186980675-187133740	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv962092	chr2:187000376-187014334	Weak transcription Enhancers	lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187000600-187005600	Weak transcription	HepG2	liver
2	chr2:187003600-187007600	Weak transcription	Psoas Muscle	Psoas

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