Variant report

Variant	rs73287331
Chromosome Location	chr12:30666383-30666384
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]
rs12581495	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17484785	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4930931	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4930932	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58828540	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61921070	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61921074	0.88[ASN][1000 genomes]
rs61921140	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61921141	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61921142	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61921143	0.94[ASN][1000 genomes]
rs61921149	0.82[EUR][1000 genomes]
rs61921150	0.86[EUR][1000 genomes]
rs9668330	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1050233	chr12:30590071-30670919	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr12:30662000-30668800	Weak transcription	Pancreas	Pancrea
2	chr12:30664400-30671400	Weak transcription	HepG2	liver
3	chr12:30665400-30667600	Weak transcription	Fetal Brain Male	brain
4	chr12:30666200-30667800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:30666200-30668800	Enhancers	Cortex derived primary cultured neurospheres	brain

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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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