Variant report

Variant	rs56306467
Chromosome Location	chr9:100157380-100157381
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:100156242..100157797-chr9:100387232..100389420,2	K562	blood:

Variant related genes	Relation type
ENSG00000136925	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10435866	0.86[EUR][1000 genomes]
rs10733603	0.81[EUR][1000 genomes]
rs10739365	0.85[AMR][1000 genomes]
rs10759605	0.85[AMR][1000 genomes]
rs10759610	0.84[AMR][1000 genomes]
rs10759619	0.80[EUR][1000 genomes]
rs10759643	0.89[EUR][1000 genomes]
rs10817361	0.85[AMR][1000 genomes]
rs10817448	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10817492	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10817513	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10817515	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981528	0.85[AMR][1000 genomes]
rs10981537	0.85[AMR][1000 genomes]
rs10981551	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10981557	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10981560	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10981625	0.81[EUR][1000 genomes]
rs10981848	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10981851	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10981889	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10981916	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12378801	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12683119	0.85[AMR][1000 genomes]
rs12683933	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1462086	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1462087	0.86[EUR][1000 genomes]
rs1462092	0.85[AMR][1000 genomes]
rs1531439	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17331748	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1870859	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2061634	0.86[EUR][1000 genomes]
rs2061635	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2255135	0.85[AMR][1000 genomes]
rs2255139	0.85[AMR][1000 genomes]
rs2255244	0.85[AMR][1000 genomes]
rs2401382	0.85[AMR][1000 genomes]
rs2447287	0.85[AMR][1000 genomes]
rs2447288	0.85[AMR][1000 genomes]
rs2447289	0.85[AMR][1000 genomes]
rs2447290	0.85[AMR][1000 genomes]
rs2487874	0.85[AMR][1000 genomes]
rs2487875	0.85[AMR][1000 genomes]
rs2502646	0.85[AMR][1000 genomes]
rs2615144	0.85[AMR][1000 genomes]
rs2795363	0.85[AMR][1000 genomes]
rs2795366	0.85[AMR][1000 genomes]
rs2795369	0.85[AMR][1000 genomes]
rs2795370	0.85[AMR][1000 genomes]
rs2818236	0.85[AMR][1000 genomes]
rs2818237	0.85[AMR][1000 genomes]
rs2818240	0.85[AMR][1000 genomes]
rs2818241	0.85[AMR][1000 genomes]
rs2818242	0.85[AMR][1000 genomes]
rs2818244	0.85[AMR][1000 genomes]
rs2859564	0.85[AMR][1000 genomes]
rs2888960	0.82[AMR][1000 genomes]
rs3953688	0.82[AMR][1000 genomes]
rs3994559	0.85[AMR][1000 genomes]
rs3994561	0.85[AMR][1000 genomes]
rs3994562	0.85[AMR][1000 genomes]
rs4345679	0.81[EUR][1000 genomes]
rs4437755	0.85[AMR][1000 genomes]
rs4524907	0.85[AMR][1000 genomes]
rs4615708	0.82[AMR][1000 genomes]
rs4645658	0.86[EUR][1000 genomes]
rs4742683	0.85[AMR][1000 genomes]
rs4742684	0.82[EUR][1000 genomes]
rs4743067	0.82[AMR][1000 genomes]
rs4743074	0.81[EUR][1000 genomes]
rs4743075	0.81[EUR][1000 genomes]
rs4743080	0.86[EUR][1000 genomes]
rs56077563	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6478043	0.84[AMR][1000 genomes]
rs6478044	0.84[AMR][1000 genomes]
rs6478051	0.85[AMR][1000 genomes]
rs6478054	0.85[AMR][1000 genomes]
rs6478055	0.85[AMR][1000 genomes]
rs6478059	0.85[AMR][1000 genomes]
rs7026893	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7029749	0.86[EUR][1000 genomes]
rs7030698	0.88[EUR][1000 genomes]
rs7033480	0.81[AMR][1000 genomes]
rs7033642	0.85[AMR][1000 genomes]
rs725228	0.85[AMR][1000 genomes]
rs725229	0.85[AMR][1000 genomes]
rs752243	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7847332	0.81[EUR][1000 genomes]
rs7850473	0.85[AMR][1000 genomes]
rs7855956	0.80[EUR][1000 genomes]
rs7860264	0.84[AMR][1000 genomes]
rs7867330	0.85[AMR][1000 genomes]
rs9408859	0.85[AMR][1000 genomes]
rs9409139	0.85[AMR][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	nsv1036105	chr9:100131266-100171816	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs56306467	RP11-520B13.4	cis	Esophagus Muscularis	GTEx
rs56306467	RP11-23J9.4	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100149600-100161400	Weak transcription	Right Atrium	heart
2	chr9:100152000-100157800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr9:100153000-100159200	Weak transcription	GM12878-XiMat	blood
4	chr9:100154000-100159000	Enhancers	HepG2	liver

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