Variant report

Variant	rs58783710
Chromosome Location	chr12:57174750-57174751
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11830013	1.00[AMR][1000 genomes]
rs11830415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11830865	1.00[AMR][1000 genomes]
rs11832786	1.00[AMR][1000 genomes]
rs11835916	1.00[AMR][1000 genomes]
rs58051650	1.00[AMR][1000 genomes]
rs59501151	1.00[AMR][1000 genomes]
rs74091604	1.00[AMR][1000 genomes]
rs74091642	1.00[AMR][1000 genomes]
rs74091895	1.00[AMR][1000 genomes]
rs74093907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74095031	1.00[AMR][1000 genomes]
rs74095032	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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1794914	chr12:57119236-57195379	Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv826382	chr12:57151464-57208607	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 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	chr12:57156400-57179400	Weak transcription	Spleen	Spleen
2	chr12:57158600-57179200	Weak transcription	HSMMtube	muscle
3	chr12:57160800-57179400	Weak transcription	Lung	lung
4	chr12:57164800-57179200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:57169000-57175600	Weak transcription	Dnd41	blood
6	chr12:57170000-57182800	Weak transcription	Brain Substantia Nigra	brain
7	chr12:57173400-57175000	Enhancers	NHEK	skin
8	chr12:57173400-57176600	Genic enhancers	Liver	Liver

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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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