Variant report

Variant	rs1270513
Chromosome Location	chr10:44422512-44422513
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11238720	1.00[ASN][1000 genomes]
rs11238721	1.00[ASN][1000 genomes]
rs1147901	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12264669	1.00[ASN][1000 genomes]
rs12266918	1.00[ASN][1000 genomes]
rs1254850	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1254852	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1254856	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1578855	1.00[ASN][1000 genomes]
rs17154499	1.00[ASN][1000 genomes]
rs17154520	1.00[ASN][1000 genomes]
rs17154571	1.00[ASN][1000 genomes]
rs1749801	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1778431	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1947673	1.00[ASN][1000 genomes]
rs2025622	1.00[ASN][1000 genomes]
rs2025623	1.00[ASN][1000 genomes]
rs2209487	1.00[ASN][1000 genomes]
rs2613103	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764797	0.89[EUR][1000 genomes]
rs2798991	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2798992	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2798994	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2798995	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28475171	1.00[ASN][1000 genomes]
rs2863233	1.00[ASN][1000 genomes]
rs28654354	1.00[ASN][1000 genomes]
rs61861590	1.00[ASN][1000 genomes]
rs7071492	1.00[ASN][1000 genomes]
rs7075076	1.00[ASN][1000 genomes]
rs7075813	1.00[ASN][1000 genomes]
rs7078623	1.00[ASN][1000 genomes]
rs7079939	1.00[ASN][1000 genomes]
rs7086449	1.00[ASN][1000 genomes]
rs7087019	1.00[ASN][1000 genomes]
rs7096797	1.00[ASN][1000 genomes]
rs73267817	1.00[ASN][1000 genomes]
rs74138919	1.00[ASN][1000 genomes]
rs7918642	1.00[ASN][1000 genomes]
rs984001	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051921	chr10:44378011-44458880	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1270513	RAB2A	trans	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44408200-44424000	Weak transcription	Right Ventricle	heart
2	chr10:44418200-44424000	Weak transcription	Left Ventricle	heart
3	chr10:44418600-44422600	Weak transcription	Spleen	Spleen
4	chr10:44421800-44426000	Enhancers	Fetal Heart	heart

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