Variant report

Variant	rs62323300
Chromosome Location	chr4:125797445-125797446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10033902	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734680	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11735485	1.00[ASN][1000 genomes]
rs13115210	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13130715	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13138940	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1483594	0.83[EUR][1000 genomes]
rs1483596	0.83[EUR][1000 genomes]
rs1506555	1.00[ASN][1000 genomes]
rs17786141	0.86[EUR][1000 genomes]
rs1848057	1.00[ASN][1000 genomes]
rs1995627	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35080385	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35111270	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36026769	1.00[ASN][1000 genomes]
rs4834005	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5005646	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62322130	1.00[ASN][1000 genomes]
rs62322133	1.00[ASN][1000 genomes]
rs62322135	1.00[ASN][1000 genomes]
rs62323260	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62323270	0.84[EUR][1000 genomes]
rs62323306	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6813200	0.81[EUR][1000 genomes]
rs6814312	1.00[ASN][1000 genomes]
rs6820187	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6820944	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6821373	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6832445	1.00[ASN][1000 genomes]
rs6838658	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838702	0.83[EUR][1000 genomes]
rs6857612	1.00[ASN][1000 genomes]
rs72685827	0.84[EUR][1000 genomes]
rs7675382	0.86[EUR][1000 genomes]
rs7687072	1.00[ASN][1000 genomes]
rs7696597	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011752	chr4:125708756-125932456	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1001338	chr4:125708756-126103293	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv830050	chr4:125717858-125888563	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv879884	chr4:125791252-125841892	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv879885	chr4:125791252-125852874	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv879886	chr4:125791252-125856465	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62323300	ANKRD50	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125796200-125797800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr4:125796600-125797600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:125796600-125797800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:125796600-125797800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:125796800-125797800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr4:125796800-125798200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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