Variant report

Variant	rs57170747
Chromosome Location	chr12:12187201-12187202
allele	C/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:13)

rs_ID	r²[population]
rs10845453	0.81[AFR][1000 genomes]
rs60058224	0.83[AFR][1000 genomes]
rs61086864	0.97[AFR][1000 genomes]
rs61212823	1.00[AMR][1000 genomes]
rs73283566	0.87[AFR][1000 genomes]
rs73285710	0.92[AFR][1000 genomes]
rs73285714	0.83[AFR][1000 genomes]
rs73285715	0.97[AFR][1000 genomes]
rs73285722	0.83[AFR][1000 genomes]
rs73285733	0.92[AFR][1000 genomes]
rs73285757	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285771	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285773	0.92[AFR][1000 genomes];1.00[AMR][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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898804	chr12:12058411-12202173	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr12:12186000-12200600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:12186400-12188400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:12186400-12188400	Weak transcription	Stomach Mucosa	stomach
4	chr12:12186400-12192800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:12186400-12192800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:12186600-12187400	Flanking Active TSS	GM12878-XiMat	blood
7	chr12:12186800-12188400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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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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