Variant report

Variant	rs57279312
Chromosome Location	chr20:23812979-23812980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55860552	1.00[AMR][1000 genomes]
rs57196594	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58913856	0.85[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:12 , 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	esv3349649	chr20:23689538-23834871	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	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
4	esv3377303	chr20:23746098-23827552	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv585729	chr20:23766096-23836124	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv965865	chr20:23784103-23836543	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23811000-23813800	Enhancers	NHDF-Ad	bronchial
2	chr20:23811000-23814000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr20:23812200-23813000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr20:23812200-23813200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr20:23812200-23813600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr20:23812200-23813600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr20:23812200-23814000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr20:23812400-23813000	Enhancers	HUVEC	blood vessel
9	chr20:23812400-23813200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr20:23812400-23813200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr20:23812400-23813200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr20:23812400-23813200	Enhancers	Osteobl	bone
13	chr20:23812400-23814000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr20:23812400-23814600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr20:23812600-23813200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr20:23812800-23813800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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