Variant report

Variant	rs4763216
Chromosome Location	chr12:10982412-10982413
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10743925	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10743926	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10772362	0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.81[ASN][1000 genomes]
rs10772365	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10845218	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10845219	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10845221	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1548803	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1838345	0.83[ASN][1000 genomes]
rs1838346	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3741845	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3863320	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3906863	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4262797	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs615239	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs655046	0.82[EUR][1000 genomes]
rs689118	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049362	chr12:10893573-11018850	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv898776	chr12:10909412-11032045	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs4763216	RP11-785H5.1	cis	Skin Sun Exposed Lower leg	GTEx
rs4763216	TAS2R14	cis	Artery Tibial	GTEx
rs4763216	TAS2R14	cis	Esophagus Muscularis	GTEx
rs4763216	PRR4	cis	Artery Tibial	GTEx
rs4763216	PRR4	cis	Muscle Skeletal	GTEx
rs4763216	RP11-434C1.1	cis	Esophagus Muscularis	GTEx
rs4763216	PRR4	cis	Thyroid	GTEx
rs4763216	TAS2R14	cis	Esophagus Mucosa	GTEx
rs4763216	RP11-434C1.1	cis	Muscle Skeletal	GTEx
rs4763216	RP11-785H5.1	cis	Thyroid	GTEx
rs4763216	TAS2R20	cis	Skin Sun Exposed Lower leg	GTEx
rs4763216	RP11-434C1.1	cis	Artery Tibial	GTEx
rs4763216	PRR4	cis	Esophagus Muscularis	GTEx
rs4763216	RP11-434C1.1	cis	lung	GTEx
rs4763216	PRR4	cis	Heart Left Ventricle	GTEx
rs4763216	PRR4	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10973600-11009600	Weak transcription	HSMM	muscle

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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