Variant report

Variant	rs73104978
Chromosome Location	chr12:40271932-40271933
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7305465	1.00[AMR][1000 genomes]
rs73092158	1.00[AMR][1000 genomes]
rs73101286	1.00[AMR][1000 genomes]
rs73103036	1.00[AMR][1000 genomes]
rs73104971	1.00[AMR][1000 genomes]
rs73104975	1.00[AMR][1000 genomes]
rs73104981	1.00[AMR][1000 genomes]
rs73104984	1.00[AFR][1000 genomes];1.00[AMR][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	nsv899025	chr12:40191778-40321846	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1049214	chr12:40197549-40326495	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40219800-40272600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:40226400-40275000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:40247000-40272000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:40247200-40272800	Weak transcription	Left Ventricle	heart
5	chr12:40262600-40280000	Weak transcription	Small Intestine	intestine
6	chr12:40262800-40272600	Weak transcription	Pancreas	Pancrea
7	chr12:40271000-40272200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr12:40271400-40273400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr12:40271600-40273800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:40271600-40274000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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Input of quick search could be:

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

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