Variant report

Variant	rs10810306
Chromosome Location	chr9:14976689-14976690
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10810294	0.86[ASN][1000 genomes]
rs10810295	0.87[ASN][1000 genomes]
rs10810296	0.86[ASN][1000 genomes]
rs10810297	0.86[ASN][1000 genomes]
rs10810298	0.86[ASN][1000 genomes]
rs10810299	0.88[ASN][1000 genomes]
rs10810305	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10810307	0.85[ASN][1000 genomes]
rs10810308	0.85[ASN][1000 genomes]
rs10961806	0.86[ASN][1000 genomes]
rs10961809	0.86[ASN][1000 genomes]
rs10961814	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10961817	0.83[ASN][1000 genomes]
rs11515200	0.86[ASN][1000 genomes]
rs11793253	0.87[ASN][1000 genomes]
rs12340301	0.85[ASN][1000 genomes]
rs12378196	0.87[ASN][1000 genomes]
rs12379705	0.87[ASN][1000 genomes]
rs1357474	0.84[ASN][1000 genomes]
rs1403560	0.86[ASN][1000 genomes]
rs1589666	0.86[ASN][1000 genomes]
rs1829850	0.85[ASN][1000 genomes]
rs1880013	0.83[ASN][1000 genomes]
rs2049291	0.91[ASN][1000 genomes]
rs2049292	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2381973	0.87[ASN][1000 genomes]
rs3861706	0.86[ASN][1000 genomes]
rs4546746	0.87[ASN][1000 genomes]
rs7020107	0.83[ASN][1000 genomes]
rs7028135	0.87[ASN][1000 genomes]
rs7042782	0.87[ASN][1000 genomes]
rs7350286	0.87[ASN][1000 genomes]
rs7350287	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv613637	chr9:14524438-15011915	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv613647	chr9:14852141-15016475	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv892620	chr9:14922877-15086021	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv892621	chr9:14928013-15043692	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2761503	chr9:14960217-15049343	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv892622	chr9:14960217-15055607	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10810306	RP11-54D18.2	cis	Esophagus Muscularis	GTEx
rs10810306	RP11-54D18.2	cis	Artery Aorta	GTEx
rs10810306	RP11-54D18.2	cis	Thyroid	GTEx
rs10810306	RP11-54D18.2	cis	Muscle Skeletal	GTEx
rs10810306	RP11-54D18.2	cis	Nerve Tibial	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14957600-14982400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:14973800-14991400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:14976400-14977200	Weak transcription	Fetal Kidney	kidney
4	chr9:14976400-14977400	Strong transcription	Fetal Stomach	stomach
5	chr9:14976600-14978600	Weak transcription	HepG2	liver

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