Variant report

Variant	rs2654468
Chromosome Location	chr16:80379730-80379731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs1116565	0.81[ASN][1000 genomes]
rs1116566	0.81[ASN][1000 genomes]
rs12922395	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1356580	0.81[ASN][1000 genomes]
rs1829380	0.81[ASN][1000 genomes]
rs1829381	0.88[ASN][1000 genomes]
rs1829382	0.87[ASN][1000 genomes]
rs1878821	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2654466	0.93[ASN][1000 genomes]
rs2679314	0.84[ASN][1000 genomes]
rs2679315	0.84[ASN][1000 genomes]
rs3107212	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3115447	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4889138	0.83[ASN][1000 genomes]
rs58467368	0.93[ASN][1000 genomes]
rs62048495	0.81[ASN][1000 genomes]
rs62048496	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061068	chr16:80207546-80537052	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv949197	chr16:80284557-80456403	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1064628	chr16:80286004-80406177	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv542986	chr16:80286004-80406177	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	esv2762333	chr16:80307755-80509983	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1056026	chr16:80317627-80471469	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv542987	chr16:80317627-80471469	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv906999	chr16:80335933-80387019	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv833299	chr16:80341745-80549683	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv521087	chr16:80379730-80381924	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2654468	DYNLRB2	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80378800-80381000	Enhancers	Fetal Stomach	stomach
2	chr16:80379600-80379800	Enhancers	Fetal Muscle Trunk	muscle
3	chr16:80379600-80379800	Enhancers	Ovary	ovary
4	chr16:80379600-80380000	Enhancers	Fetal Lung	lung
5	chr16:80379600-80380400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr16:80379600-80380600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:80379600-80380600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr16:80379600-80380800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:80379600-80380800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr16:80379600-80380800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr16:80379600-80380800	Enhancers	HSMMtube	muscle
12	chr16:80379600-80381000	Enhancers	Fetal Muscle Leg	muscle
13	chr16:80379600-80381000	Enhancers	Osteobl	bone
14	chr16:80379600-80382000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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

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