Variant report

Variant	rs2723483
Chromosome Location	chr7:13571444-13571445
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10429087	0.91[ASN][1000 genomes]
rs12534739	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1404937	0.91[ASN][1000 genomes]
rs1404938	0.83[ASN][1000 genomes]
rs1663	0.83[ASN][1000 genomes]
rs17280283	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2091310	0.83[ASN][1000 genomes]
rs2462613	0.83[ASN][1000 genomes]
rs2462614	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2466495	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2466496	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2466498	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2692466	0.91[ASN][1000 genomes]
rs2692467	0.83[ASN][1000 genomes]
rs2692468	0.83[ASN][1000 genomes]
rs2692472	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2692479	0.91[ASN][1000 genomes]
rs2692480	0.91[ASN][1000 genomes]
rs2692481	0.91[ASN][1000 genomes]
rs2692482	0.91[ASN][1000 genomes]
rs2692483	0.91[ASN][1000 genomes]
rs2692484	0.91[ASN][1000 genomes]
rs2692485	0.91[ASN][1000 genomes]
rs2692486	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2692487	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2692489	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2723394	0.91[ASN][1000 genomes]
rs2723396	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2723486	0.83[ASN][1000 genomes]
rs2723487	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2723488	0.91[ASN][1000 genomes]
rs62451874	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019173	chr7:13063854-13585360	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv538737	chr7:13063854-13585360	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1023580	chr7:13403531-13624975	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1022312	chr7:13561595-13576298	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2723483	VWDE	cis	cerebellum	SCAN
rs2723483	TMEM106B	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13570800-13571800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:13571200-13571800	Enhancers	H9 Cell Line	embryonic stem cell
3	chr7:13571200-13571800	Enhancers	HUES64 Cell Line	embryonic stem cell

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