Variant report

Variant	rs72992758
Chromosome Location	chr2:142278658-142278659
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10496883	0.93[AFR][1000 genomes]
rs1483150	1.00[AMR][1000 genomes]
rs1483151	1.00[AMR][1000 genomes]
rs16846150	0.82[AFR][1000 genomes]
rs16846186	0.86[AFR][1000 genomes]
rs16846227	0.93[AFR][1000 genomes]
rs16846233	0.93[AFR][1000 genomes]
rs16846250	0.93[AFR][1000 genomes]
rs16846257	0.93[AFR][1000 genomes]
rs16846262	0.89[AFR][1000 genomes]
rs16846311	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846319	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846475	1.00[AMR][1000 genomes]
rs16846480	1.00[AMR][1000 genomes]
rs16846504	1.00[AMR][1000 genomes]
rs16846515	1.00[AMR][1000 genomes]
rs60388182	0.82[AFR][1000 genomes]
rs61221994	0.82[AFR][1000 genomes]
rs72976079	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72976082	1.00[AMR][1000 genomes]
rs72976086	1.00[AMR][1000 genomes]
rs72976087	1.00[AMR][1000 genomes]
rs72978005	1.00[AMR][1000 genomes]
rs72989025	0.82[AFR][1000 genomes]
rs72989033	0.82[AFR][1000 genomes]
rs72989056	0.82[AFR][1000 genomes]
rs72989075	0.93[AFR][1000 genomes]
rs72989081	0.93[AFR][1000 genomes]
rs72989098	0.93[AFR][1000 genomes]
rs72989102	0.93[AFR][1000 genomes]
rs72991023	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992746	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992762	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7423788	0.86[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	chr2:142277200-142279000	Enhancers	Brain Angular Gyrus	brain
2	chr2:142277200-142279000	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr2:142278200-142279600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:142278200-142280600	Enhancers	Brain Substantia Nigra	brain
5	chr2:142278600-142278800	Enhancers	Brain Anterior Caudate	brain
6	chr2:142278600-142279400	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:142278600-142280000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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