Variant report

Variant	rs12472734
Chromosome Location	chr2:142279077-142279078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10165850	0.83[AFR][1000 genomes]
rs10165979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10170114	0.83[AFR][1000 genomes]
rs10176397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10176693	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10187180	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10200529	0.94[AFR][1000 genomes]
rs10200578	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10200582	0.85[AFR][1000 genomes]
rs10200782	1.00[AMR][1000 genomes]
rs10200845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11887261	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11904458	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12466189	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12617980	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12618575	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12691613	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12691614	1.00[AMR][1000 genomes]
rs12691615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1483138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1483152	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1905292	0.85[AFR][1000 genomes]
rs2128694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2170667	1.00[AMR][1000 genomes]
rs2381110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2381111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2381112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2381113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2381192	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3935992	1.00[AMR][1000 genomes]
rs4008531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4245859	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4264515	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4296372	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4359580	0.96[AFR][1000 genomes]
rs4366842	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4396652	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4439901	1.00[AMR][1000 genomes]
rs4441406	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4476294	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4477847	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4482418	0.94[AFR][1000 genomes]
rs4482419	0.92[AFR][1000 genomes]
rs4555282	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4954909	1.00[AMR][1000 genomes]
rs4954913	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6429896	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6429897	0.84[AFR][1000 genomes]
rs6429901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6429902	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6706356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6706377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6707441	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6708438	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6710020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6713043	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6718844	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6737585	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6749472	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7557631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7571511	0.84[AFR][1000 genomes]
rs7572480	1.00[AMR][1000 genomes]
rs7582623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7585325	1.00[AMR][1000 genomes]
rs7590820	0.85[AFR][1000 genomes]
rs7593866	1.00[AMR][1000 genomes]
rs7607376	1.00[AMR][1000 genomes]
rs983197	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs983198	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs983199	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs988330	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817518	chr2:141714174-142287302	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv583203	chr2:142055133-142378975	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv875240	chr2:142199421-142347455	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	nsv470491	chr2:142254119-142299923	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv834393	chr2:142256714-142431564	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
6	nsv583210	chr2:142259592-142295042	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	nsv459629	chr2:142263400-142295042	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv583211	chr2:142263400-142295042	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv583212	chr2:142263979-142309330	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142278200-142279600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:142278200-142280600	Enhancers	Brain Substantia Nigra	brain
3	chr2:142278600-142279400	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:142278600-142280000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:142278800-142291200	Weak transcription	Brain Anterior Caudate	brain
6	chr2:142279000-142279400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:142279000-142280000	Weak transcription	Brain Angular Gyrus	brain

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