Variant report

Variant	rs7423992
Chromosome Location	chr2:141263454-141263455
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11884294	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11891221	0.91[ASN][1000 genomes]
rs11899167	0.90[ASN][1000 genomes]
rs11899434	0.91[ASN][1000 genomes]
rs11903109	0.90[ASN][1000 genomes]
rs11903329	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12999683	0.91[ASN][1000 genomes]
rs13003817	0.91[ASN][1000 genomes]
rs13003819	0.91[ASN][1000 genomes]
rs13003828	0.91[ASN][1000 genomes]
rs13030114	0.91[ASN][1000 genomes]
rs1401114	0.91[ASN][1000 genomes]
rs1401115	0.91[ASN][1000 genomes]
rs1401117	0.91[ASN][1000 genomes]
rs1518443	0.91[ASN][1000 genomes]
rs1518444	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1518445	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1518446	0.91[ASN][1000 genomes]
rs17387292	0.90[ASN][1000 genomes]
rs17387299	0.91[ASN][1000 genomes]
rs17387536	0.90[ASN][1000 genomes]
rs1878741	0.91[ASN][1000 genomes]
rs1878742	0.91[ASN][1000 genomes]
rs4450541	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4474828	0.90[ASN][1000 genomes]
rs6747180	0.91[ASN][1000 genomes]
rs72897813	0.90[ASN][1000 genomes]
rs72897827	0.90[ASN][1000 genomes]
rs72897830	0.91[ASN][1000 genomes]
rs72899862	0.90[ASN][1000 genomes]
rs72899866	0.90[ASN][1000 genomes]
rs72899869	0.90[ASN][1000 genomes]
rs72899900	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901703	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901708	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901711	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901718	0.86[AMR][1000 genomes]
rs72901723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901724	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901730	0.88[AMR][1000 genomes];0.90[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	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	nsv875191	chr2:141218933-141268030	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	inside rSNPs	n/a
4	nsv459518	chr2:141218933-141282923	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
5	nsv583191	chr2:141218933-141282923	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	n/a
6	nsv875192	chr2:141224542-141268030	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141261200-141264000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:141262000-141264200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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