Variant report

Variant	rs60216384
Chromosome Location	chr12:45467848-45467849
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12578220	1.00[AMR][1000 genomes]
rs12578314	1.00[AMR][1000 genomes]
rs12578982	1.00[AMR][1000 genomes]
rs12579006	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12580208	1.00[AMR][1000 genomes]
rs12580562	1.00[AMR][1000 genomes]
rs12581545	1.00[AMR][1000 genomes]
rs12581841	1.00[AMR][1000 genomes]
rs12581880	1.00[AMR][1000 genomes]
rs17095474	1.00[AMR][1000 genomes]
rs3759079	1.00[AMR][1000 genomes]
rs41331147	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	esv3351644	chr12:45345597-45529449	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1045857	chr12:45351172-45468784	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv541485	chr12:45351172-45468784	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr12:45466600-45469400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:45466600-45469400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr12:45466600-45469600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:45466800-45468800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:45466800-45469400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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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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