Variant report

Variant	rs9304250
Chromosome Location	chr18:39164022-39164023
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10221329	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10502770	0.82[EUR][1000 genomes]
rs10502771	0.80[EUR][1000 genomes]
rs11082241	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13381575	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1560844	0.80[EUR][1000 genomes]
rs16975000	0.83[EUR][1000 genomes]
rs16975004	0.83[EUR][1000 genomes]
rs16975007	0.83[EUR][1000 genomes]
rs16975010	0.82[EUR][1000 genomes]
rs16975012	0.83[EUR][1000 genomes]
rs16975017	0.83[EUR][1000 genomes]
rs16975021	0.82[EUR][1000 genomes]
rs16975022	0.82[EUR][1000 genomes]
rs16975025	0.82[EUR][1000 genomes]
rs16975035	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16975049	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16975051	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1942063	0.80[EUR][1000 genomes]
rs1942065	0.81[EUR][1000 genomes]
rs1942069	0.82[EUR][1000 genomes]
rs1942070	0.82[EUR][1000 genomes]
rs2156006	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2315174	0.81[EUR][1000 genomes]
rs35462279	0.83[EUR][1000 genomes]
rs55797333	0.80[EUR][1000 genomes]
rs56812327	0.80[EUR][1000 genomes]
rs56933066	0.84[EUR][1000 genomes]
rs57249168	0.80[EUR][1000 genomes]
rs58350157	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6507424	0.80[EUR][1000 genomes]
rs72905923	0.83[EUR][1000 genomes]
rs72905924	0.83[EUR][1000 genomes]
rs72905948	0.83[EUR][1000 genomes]
rs72905963	0.80[EUR][1000 genomes]
rs72905965	0.80[EUR][1000 genomes]
rs72905967	0.80[EUR][1000 genomes]
rs72905979	0.80[EUR][1000 genomes]
rs72907848	0.80[EUR][1000 genomes]
rs734357	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73450796	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8087434	0.80[EUR][1000 genomes]
rs8087485	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9304249	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9956251	0.85[AFR][1000 genomes]
rs9965809	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909564	chr18:38739067-39179256	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1066869	chr18:38742896-39680723	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv543685	chr18:38742896-39680723	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv2267	chr18:39123940-39169583	Enhancers Weak transcription Strong transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
5	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9304250	RP11-142I20.1	cis	Thyroid	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39160800-39167600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr18:39160800-39168400	Weak transcription	Fetal Heart	heart
3	chr18:39161000-39168600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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