Variant report

Variant	rs12885310
Chromosome Location	chr14:38241833-38241834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12878846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17768654	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34069628	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34469876	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34496783	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35190835	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35243823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35438963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35505269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35706871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35791659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36074427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36189403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36194865	1.00[AMR][1000 genomes];1.00[EUR][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	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916985	chr14:38052347-38838551	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
3	nsv564383	chr14:38223275-38262762	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
4	nsv564384	chr14:38233493-38262762	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38241600-38242000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr14:38241600-38242000	Enhancers	H1 Cell Line	embryonic stem cell
3	chr14:38241600-38242000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr14:38241600-38242000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:38241600-38242200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr14:38241600-38242400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr14:38241800-38247200	Weak transcription	iPS DF 19.11 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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