Variant report

Variant	rs491648
Chromosome Location	chr15:43588439-43588440
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:43586330..43589415-chr15:43618040..43621005,4	K562	blood:
2	chr15:43586588..43588941-chr15:43618040..43620629,3	K562	blood:
3	chr15:43582742..43587018-chr15:43587403..43593084,5	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1095386	0.82[AMR][1000 genomes]
rs1123947	0.88[AMR][1000 genomes]
rs11858152	0.86[AMR][1000 genomes]
rs12101673	0.88[AMR][1000 genomes]
rs12324572	0.82[AMR][1000 genomes]
rs12440854	0.85[EUR][1000 genomes]
rs1549523	0.86[AMR][1000 genomes]
rs1549525	0.86[AMR][1000 genomes]
rs16957627	0.82[AMR][1000 genomes]
rs16957630	0.82[AMR][1000 genomes]
rs16957632	0.82[AMR][1000 genomes]
rs2278858	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2278859	0.88[AMR][1000 genomes]
rs2412778	0.80[AMR][1000 genomes]
rs28415933	0.82[AMR][1000 genomes]
rs28446815	0.83[EUR][1000 genomes]
rs28578454	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28594657	0.88[EUR][1000 genomes]
rs28758627	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3213990	0.80[AMR][1000 genomes]
rs3742969	0.86[AMR][1000 genomes]
rs3742971	0.86[AMR][1000 genomes]
rs3809481	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4075674	0.80[AMR][1000 genomes]
rs478104	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs484029	0.86[AMR][1000 genomes]
rs484846	0.85[AMR][1000 genomes]
rs498837	0.82[AMR][1000 genomes]
rs511673	0.82[AMR][1000 genomes]
rs528517	0.81[AMR][1000 genomes]
rs540031	0.82[AMR][1000 genomes]
rs6493081	0.83[AMR][1000 genomes]
rs6493082	0.83[AMR][1000 genomes]
rs6493085	0.80[AMR][1000 genomes]
rs6493088	0.80[AMR][1000 genomes]
rs7165471	0.83[AMR][1000 genomes]
rs7168940	0.88[AMR][1000 genomes]
rs7170489	0.82[AMR][1000 genomes]
rs7175434	0.86[AMR][1000 genomes]
rs8033714	0.80[AMR][1000 genomes]
rs8039638	0.82[AMR][1000 genomes]
rs8041132	0.83[AMR][1000 genomes]
rs825739	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs825740	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs933941	0.83[AMR][1000 genomes]
rs956391	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs491648	ELL3	Cis_1M	lymphoblastoid	RTeQTL
rs491648	AC011330.5	cis	Esophagus Mucosa	GTEx
rs491648	ADAL	cis	Adipose Subcutaneous	GTEx
rs491648	ADAL	cis	Artery Tibial	GTEx
rs491648	ADAL	cis	Nerve Tibial	GTEx
rs491648	CKMT1A	cis	Esophagus Mucosa	GTEx
rs491648	ADAL	cis	Heart Left Ventricle	GTEx
rs491648	ADAL	cis	Esophagus Muscularis	GTEx
rs491648	ADAL	cis	lung	GTEx
rs491648	ADAL	cis	Stomach	GTEx
rs491648	ADAL	cis	Skin Sun Exposed Lower leg	GTEx
rs491648	ADAL	cis	Thyroid	GTEx
rs491648	CATSPER2	cis	Esophagus Mucosa	GTEx
rs491648	AC011330.5	cis	Nerve Tibial	GTEx
rs491648	ADAL	Cis_1M	lymphoblastoid	RTeQTL
rs491648	ADAL	cis	Artery Aorta	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43585800-43588800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr15:43586000-43589000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr15:43586400-43590000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr15:43586600-43590200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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