Variant report

Variant	rs73338948
Chromosome Location	chr12:57203867-57203868
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:14)

rs_ID	r²[population]
rs11171921	1.00[EUR][1000 genomes]
rs12298255	1.00[EUR][1000 genomes]
rs12299901	1.00[EUR][1000 genomes]
rs12301171	1.00[EUR][1000 genomes]
rs12304710	1.00[EUR][1000 genomes]
rs12306516	1.00[EUR][1000 genomes]
rs12316351	1.00[EUR][1000 genomes]
rs12317442	1.00[EUR][1000 genomes]
rs28753857	1.00[EUR][1000 genomes]
rs56951470	1.00[EUR][1000 genomes]
rs57164654	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59626769	1.00[EUR][1000 genomes]
rs73338947	1.00[EUR][1000 genomes]
rs9290	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57202800-57204400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:57202800-57204400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:57203200-57210200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:57203400-57209800	Weak transcription	Right Atrium	heart
5	chr12:57203600-57204200	ZNF genes & repeats	Fetal Thymus	thymus

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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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