Variant report

Variant	rs57196594
Chromosome Location	chr20:23837014-23837015
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs55860552	1.00[AMR][1000 genomes]
rs57279312	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58913856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60750926	1.00[AMR][1000 genomes]
rs73902173	1.00[AMR][1000 genomes]
rs73902195	1.00[AMR][1000 genomes]
rs73902196	1.00[AMR][1000 genomes]
rs73902198	1.00[AMR][1000 genomes]
rs73902200	1.00[AMR][1000 genomes]
rs73902201	1.00[AMR][1000 genomes]
rs73902202	1.00[AMR][1000 genomes]
rs73905804	1.00[AMR][1000 genomes]
rs73905805	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3356621	chr20:23729388-23838883	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv912823	chr20:23756139-23847009	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv436326	chr20:23757769-23838141	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv3336	chr20:23804081-23848943	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv833944	chr20:23806288-24021865	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv585730	chr20:23809681-23862844	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv962597	chr20:23809833-23839972	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23832800-23838200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr20:23832800-23838200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr20:23833000-23838000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr20:23833000-23846800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr20:23836400-23837200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr20:23836800-23838000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr20:23836800-23838600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr20:23837000-23837200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr20:23837000-23837600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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