Variant report

Variant	rs12621401
Chromosome Location	chr2:53071780-53071781
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10164801	0.81[ASN][1000 genomes]
rs10164868	0.81[ASN][1000 genomes]
rs10167421	0.86[ASN][1000 genomes]
rs10179810	0.81[ASN][1000 genomes]
rs10206560	0.87[ASN][1000 genomes]
rs11125450	0.83[ASN][1000 genomes]
rs12104861	0.86[EUR][1000 genomes]
rs12104865	0.84[EUR][1000 genomes]
rs12477231	0.85[ASN][1000 genomes]
rs12611901	0.95[ASN][1000 genomes]
rs12614827	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12614959	0.83[ASN][1000 genomes]
rs12618983	0.82[ASN][1000 genomes]
rs12713224	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713228	0.82[ASN][1000 genomes]
rs12713230	0.82[ASN][1000 genomes]
rs12713232	0.82[ASN][1000 genomes]
rs13002328	0.81[ASN][1000 genomes]
rs13003962	0.81[ASN][1000 genomes]
rs13014502	0.95[ASN][1000 genomes]
rs1376569	0.80[ASN][1000 genomes]
rs1451456	0.86[ASN][1000 genomes]
rs1451458	0.82[ASN][1000 genomes]
rs1451460	0.81[ASN][1000 genomes]
rs1839771	0.81[ASN][1000 genomes]
rs2356675	0.88[ASN][1000 genomes]
rs2356680	0.81[ASN][1000 genomes]
rs2356681	0.85[ASN][1000 genomes]
rs36130286	0.82[ASN][1000 genomes]
rs4525730	0.86[ASN][1000 genomes]
rs6715857	0.81[ASN][1000 genomes]
rs6725912	0.81[ASN][1000 genomes]
rs6754423	0.81[ASN][1000 genomes]
rs67939368	0.89[ASN][1000 genomes]
rs724859	0.85[ASN][1000 genomes]
rs724860	0.85[ASN][1000 genomes]
rs74181216	0.89[ASN][1000 genomes]
rs7577692	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998380	chr2:52891706-53222155	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	esv2763631	chr2:52910862-53169629	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1006244	chr2:52958322-53169617	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1005813	chr2:52959769-53114865	Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1010978	chr2:52959769-53249951	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1014068	chr2:52960353-53169617	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv520722	chr2:53039770-53421015	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3435550	chr2:53069350-53092313	Weak transcription Enhancers ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53071400-53072000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:53071400-53072000	Enhancers	HUES64 Cell Line	embryonic stem cell

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