Variant report

Variant	rs1870968
Chromosome Location	chr20:52754504-52754505
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:12)

rs_ID	r²[population]
rs1870969	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2086023	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2585416	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2585439	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2585446	0.82[ASN][1000 genomes]
rs2762926	0.95[ASN][1000 genomes]
rs2762930	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2762931	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34972661	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6013901	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs750549	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs927650	0.82[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	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv586280	chr20:52718555-52758416	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	84 gene(s)	inside rSNPs	diseases
3	nsv912945	chr20:52746724-52772741	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52750200-52756600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:52750800-52755800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr20:52751000-52756600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr20:52751200-52758000	Weak transcription	Placenta	Placenta
5	chr20:52751400-52755800	Weak transcription	NHDF-Ad	bronchial
6	chr20:52751400-52756200	Weak transcription	HSMM	muscle
7	chr20:52751400-52757000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr20:52751400-52757200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr20:52751400-52758200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr20:52751600-52756000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr20:52754000-52758400	Enhancers	HepG2	liver
12	chr20:52754200-52755600	Weak transcription	NH-A	brain
13	chr20:52754400-52755400	Enhancers	A549	lung
14	chr20:52754400-52755800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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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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