Variant report

Variant	rs72899866
Chromosome Location	chr2:141226309-141226310
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11884294	0.90[ASN][1000 genomes]
rs11891221	0.82[ASN][1000 genomes]
rs11897270	0.82[ASN][1000 genomes]
rs11899167	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11899434	0.82[ASN][1000 genomes]
rs11903109	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903329	0.90[ASN][1000 genomes]
rs12999683	0.82[ASN][1000 genomes]
rs13003817	0.82[ASN][1000 genomes]
rs13003819	0.82[ASN][1000 genomes]
rs13003828	0.82[ASN][1000 genomes]
rs13023944	0.82[ASN][1000 genomes]
rs13030114	0.82[ASN][1000 genomes]
rs1401114	0.82[ASN][1000 genomes]
rs1401115	0.82[ASN][1000 genomes]
rs1401117	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1518443	0.82[ASN][1000 genomes]
rs1518444	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1518445	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1518446	0.82[ASN][1000 genomes]
rs17387292	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17387299	0.82[ASN][1000 genomes]
rs17387536	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1829364	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1878741	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1878742	0.82[ASN][1000 genomes]
rs4450541	0.90[ASN][1000 genomes]
rs4474828	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747180	0.82[ASN][1000 genomes]
rs72897813	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72897827	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72897830	0.82[ASN][1000 genomes]
rs72898260	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72898263	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72898290	0.82[ASN][1000 genomes]
rs72899862	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72899869	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72899900	0.90[ASN][1000 genomes]
rs72901703	0.90[ASN][1000 genomes]
rs72901708	0.90[ASN][1000 genomes]
rs72901711	0.90[ASN][1000 genomes]
rs72901714	0.90[ASN][1000 genomes]
rs72901718	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72901723	0.90[ASN][1000 genomes]
rs72901724	0.90[ASN][1000 genomes]
rs72901730	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7423992	0.90[ASN][1000 genomes]
rs7593984	0.82[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	esv2754266	chr2:141023643-141270786	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv2756334	chr2:141166521-141285622	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
3	nsv875187	chr2:141170340-141237995	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	inside rSNPs	n/a
4	nsv875188	chr2:141207018-141253408	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
5	nsv875189	chr2:141207018-141258419	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
6	nsv875190	chr2:141218933-141258419	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	n/a
7	nsv875191	chr2:141218933-141268030	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	inside rSNPs	n/a
8	nsv459518	chr2:141218933-141282923	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
9	nsv583191	chr2:141218933-141282923	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	n/a
10	nsv875192	chr2:141224542-141268030	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	n/a

Variant related diseases (count:1)

Disease	PMID	Source
Periodontitis (CDC/AAP)	24024966	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141223200-141226600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:141226200-141226800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:141226200-141231800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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