Variant report

Variant	rs72808320
Chromosome Location	chr5:151741858-151741859
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1035401	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1363413	1.00[EUR][1000 genomes]
rs1592896	0.98[EUR][1000 genomes]
rs17113105	0.87[EUR][1000 genomes]
rs17443704	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17447016	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs17543712	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs17544525	0.82[EUR][1000 genomes]
rs17545590	1.00[ASN][1000 genomes]
rs17735797	1.00[ASN][1000 genomes]
rs2042205	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2112538	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2348648	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs55689355	0.83[EUR][1000 genomes]
rs55724355	1.00[ASN][1000 genomes]
rs55917590	0.88[EUR][1000 genomes]
rs55920366	1.00[EUR][1000 genomes]
rs56044017	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs56091570	0.82[EUR][1000 genomes]
rs72791443	1.00[ASN][1000 genomes]
rs72804360	1.00[ASN][1000 genomes]
rs72804364	0.84[EUR][1000 genomes]
rs72804371	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72806351	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72806361	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72806362	1.00[ASN][1000 genomes]
rs72806363	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72806364	0.94[EUR][1000 genomes]
rs72806368	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72806400	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72806402	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72808307	0.99[EUR][1000 genomes]
rs72808310	1.00[EUR][1000 genomes]
rs72808322	1.00[EUR][1000 genomes]
rs72808324	1.00[EUR][1000 genomes]
rs72808326	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72808328	1.00[EUR][1000 genomes]
rs72808330	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72808338	0.91[EUR][1000 genomes]
rs766895	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023828	chr5:151522149-151956217	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830519	chr5:151588627-151800192	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv883048	chr5:151682439-151846236	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv432814	chr5:151682807-151852807	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv432815	chr5:151682807-151875807	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv432816	chr5:151691807-151875807	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2763511	chr5:151737559-151776755	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72808320	NMUR2	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151740600-151744400	Weak transcription	Fetal Heart	heart

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