Variant report

Variant	rs530293
Chromosome Location	chr11:84981466-84981467
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12419394	0.89[ASN][1000 genomes]
rs1682383	0.94[ASN][1000 genomes]
rs17810088	0.83[EUR][1000 genomes]
rs1793210	0.84[ASN][1000 genomes]
rs1826612	0.87[ASN][1000 genomes]
rs1914376	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs286044	0.83[ASN][1000 genomes]
rs35167573	0.87[ASN][1000 genomes]
rs473968	0.94[ASN][1000 genomes]
rs474992	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs475164	0.94[ASN][1000 genomes]
rs476781	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs488668	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4944513	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs495905	0.94[ASN][1000 genomes]
rs496814	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs497607	0.88[ASN][1000 genomes]
rs500307	0.89[ASN][1000 genomes]
rs508177	0.90[ASN][1000 genomes]
rs512775	0.94[ASN][1000 genomes]
rs512910	0.94[ASN][1000 genomes]
rs514639	0.87[ASN][1000 genomes]
rs516080	0.89[ASN][1000 genomes]
rs516620	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs519429	0.94[ASN][1000 genomes]
rs526990	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs527928	0.88[ASN][1000 genomes]
rs531331	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs534604	0.94[ASN][1000 genomes]
rs539551	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs550981	0.96[ASN][1000 genomes]
rs680675	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73525446	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs789599	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs938728	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs951729	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044370	chr11:84748993-85293233	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv898043	chr11:84895033-85148689	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv898044	chr11:84895033-85220773	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84967800-85019400	Weak transcription	Ovary	ovary
2	chr11:84974800-84998400	Weak transcription	HSMMtube	muscle
3	chr11:84975200-84982200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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