Variant report

Variant	rs6072996
Chromosome Location	chr20:41769928-41769929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1572928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2096076	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2226076	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]
rs6072999	1.00[EUR][1000 genomes]
rs6073001	0.87[AMR][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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41764800-41771400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:41767200-41775000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr20:41767600-41772400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr20:41768000-41770000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr20:41768400-41770200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr20:41769200-41774400	Weak transcription	Brain Substantia Nigra	brain
7	chr20:41769400-41774000	Weak transcription	Brain Hippocampus Middle	brain
8	chr20:41769800-41770400	Enhancers	HSMMtube	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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