Variant report

Variant	rs13005367
Chromosome Location	chr2:123824377-123824378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1154995	0.86[EUR][1000 genomes]
rs1160010	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1160011	0.87[EUR][1000 genomes]
rs12620936	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13031371	0.88[EUR][1000 genomes]
rs1395931	0.80[EUR][1000 genomes]
rs1507667	0.83[EUR][1000 genomes]
rs1606802	0.80[EUR][1000 genomes]
rs188493	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2244129	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2248895	0.83[EUR][1000 genomes]
rs2419071	0.87[EUR][1000 genomes]
rs2458994	0.88[EUR][1000 genomes]
rs2661001	0.85[EUR][1000 genomes]
rs2661032	0.88[EUR][1000 genomes]
rs2661035	0.86[EUR][1000 genomes]
rs2661036	0.81[EUR][1000 genomes]
rs2661041	0.86[EUR][1000 genomes]
rs2661043	0.85[EUR][1000 genomes]
rs2661044	0.85[EUR][1000 genomes]
rs2661045	0.85[EUR][1000 genomes]
rs2673182	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2673185	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2673187	0.88[EUR][1000 genomes]
rs2673188	0.88[EUR][1000 genomes]
rs2673189	0.88[EUR][1000 genomes]
rs2673194	0.86[EUR][1000 genomes]
rs2673196	0.85[EUR][1000 genomes]
rs2900804	0.86[EUR][1000 genomes]
rs299536	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs299539	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs299540	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs299542	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs299544	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs299545	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs299546	0.88[EUR][1000 genomes]
rs299548	0.88[EUR][1000 genomes]
rs299549	0.88[EUR][1000 genomes]
rs299550	0.88[EUR][1000 genomes]
rs299551	0.88[EUR][1000 genomes]
rs299553	0.88[EUR][1000 genomes]
rs299560	0.81[EUR][1000 genomes]
rs299561	0.80[EUR][1000 genomes]
rs299562	0.81[EUR][1000 genomes]
rs36131743	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4848824	0.81[EUR][1000 genomes]
rs6747893	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9636359	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492280	chr2:123447662-123973577	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2760647	chr2:123678437-124619697	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1010200	chr2:123816326-123887210	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:123822400-123825400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:123823000-123826400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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