Variant report

Variant	rs3754133
Chromosome Location	chr1:179513764-179513765
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NPHS2-1	chr1:179512336-179515388	ENSG00000261250.1

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10913809	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11582158	0.93[ASN][1000 genomes]
rs12403885	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12406197	0.88[EUR][1000 genomes]
rs12724901	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12736279	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12736545	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1328597	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1328598	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1410589	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1576224	0.86[ASN][1000 genomes]
rs1887815	0.83[EUR][1000 genomes]
rs2209919	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34291276	0.93[ASN][1000 genomes]
rs34463289	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35401719	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs35427395	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36057553	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3765548	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4651037	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4652418	0.81[EUR][1000 genomes]
rs4652426	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61826364	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61826365	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61826402	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9699789	0.98[AFR][1000 genomes];0.82[EUR][1000 genomes];0.93[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	nsv522746	chr1:179501365-179518459	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3754133	AXDND1	cis	Thyroid	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179487200-179515000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:179510600-179520600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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