Variant report

Variant	rs12273488
Chromosome Location	chr11:120774567-120774568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17124520	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs17124522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7109008	1.00[AFR][1000 genomes]
rs7109138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7109151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7109262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7123557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7123915	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1053607	chr11:120540795-120802006	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1038264	chr11:120582595-120799335	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv541181	chr11:120582595-120799335	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120747400-120799400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr11:120754800-120783600	Weak transcription	Brain Anterior Caudate	brain
3	chr11:120765600-120782400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:120772000-120792200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:120773400-120774800	Enhancers	Spleen	Spleen
6	chr11:120773400-120775400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:120773400-120776800	Enhancers	Esophagus	oesophagus
8	chr11:120773600-120774800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:120773800-120781600	Weak transcription	Gastric	stomach
10	chr11:120774200-120774800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr11:120774200-120776000	Enhancers	Placenta	Placenta
12	chr11:120774200-120779000	Weak transcription	Fetal Lung	lung
13	chr11:120774400-120774600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr11:120774400-120774600	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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