Variant report

Variant	rs12280976
Chromosome Location	chr11:120771606-120771607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12283136	1.00[EUR][1000 genomes]
rs17124522	1.00[EUR][1000 genomes]
rs7109008	1.00[EUR][1000 genomes]
rs7109138	1.00[EUR][1000 genomes]
rs7109151	1.00[EUR][1000 genomes]
rs7109262	1.00[EUR][1000 genomes]
rs7109612	1.00[EUR][1000 genomes]
rs7122076	1.00[EUR][1000 genomes]
rs7123285	1.00[EUR][1000 genomes]
rs7123557	1.00[EUR][1000 genomes]
rs7123915	1.00[EUR][1000 genomes]
rs73589504	1.00[EUR][1000 genomes]
rs73589525	1.00[EUR][1000 genomes]
rs73599482	1.00[EUR][1000 genomes]
rs73599484	1.00[EUR][1000 genomes]
rs73599490	1.00[EUR][1000 genomes]
rs73599492	1.00[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	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:12 , 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	chr11:120769000-120771800	Enhancers	Fetal Intestine Large	intestine
5	chr11:120769400-120772800	Enhancers	Brain Germinal Matrix	brain
6	chr11:120771000-120772000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr11:120771200-120772000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:120771400-120771800	Enhancers	Fetal Brain Male	brain
9	chr11:120771400-120772000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:120771400-120772000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:120771600-120771800	Bivalent Enhancer	Fetal Stomach	stomach
12	chr11:120771600-120772000	Weak transcription	Fetal Brain Female	brain

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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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