Variant report

Variant	rs6072999
Chromosome Location	chr20:41775295-41775296
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1572928	1.00[EUR][1000 genomes]
rs2096076	1.00[EUR][1000 genomes]
rs2226076	0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2425611	1.00[EUR][1000 genomes]
rs2867650	1.00[EUR][1000 genomes]
rs4352282	1.00[EUR][1000 genomes]
rs58686150	1.00[EUR][1000 genomes]
rs6016969	1.00[EUR][1000 genomes]
rs6072982	1.00[EUR][1000 genomes]
rs6072996	1.00[EUR][1000 genomes]
rs6124526	1.00[EUR][1000 genomes]
rs73279075	1.00[EUR][1000 genomes]
rs947200	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063450	chr20:41409901-41880620	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1060690	chr20:41413369-41851935	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1066088	chr20:41417205-42060036	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv2751914	chr20:41744586-41890453	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41774000-41775800	Enhancers	Brain Hippocampus Middle	brain
2	chr20:41774400-41775800	Enhancers	Brain Substantia Nigra	brain
3	chr20:41774800-41775400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr20:41774800-41775600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr20:41775000-41775400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr20:41775000-41775800	Enhancers	Brain Cingulate Gyrus	brain
7	chr20:41775200-41775600	Enhancers	Brain Anterior Caudate	brain
8	chr20:41775200-41775600	Enhancers	Fetal Stomach	stomach
9	chr20:41775200-41775800	Enhancers	Brain Inferior Temporal Lobe	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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