Variant report

Variant	rs55751885
Chromosome Location	chr20:12694838-12694839
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:15)

rs_ID	r²[population]
rs1333383	0.86[ASN][1000 genomes]
rs1333391	0.93[ASN][1000 genomes]
rs1333392	0.95[ASN][1000 genomes]
rs2210565	0.83[ASN][1000 genomes]
rs2327467	0.84[ASN][1000 genomes]
rs2876247	0.83[ASN][1000 genomes]
rs4814155	0.86[ASN][1000 genomes]
rs6033503	0.84[ASN][1000 genomes]
rs6033504	0.84[ASN][1000 genomes]
rs6041574	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6041580	0.86[ASN][1000 genomes]
rs6041582	0.83[ASN][1000 genomes]
rs6041584	0.84[ASN][1000 genomes]
rs73261113	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73899272	1.00[EUR][1000 genomes];0.98[ASN][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	nsv1058919	chr20:11917331-12733316	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv544183	chr20:11917331-12733316	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv18943	chr20:12627634-12841804	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:12691800-12703000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:12693400-12697200	Enhancers	HMEC	breast
3	chr20:12693600-12697200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr20:12693800-12696600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr20:12694200-12695200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr20:12694600-12696200	Enhancers	NHEK	skin
7	chr20:12694800-12696400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr20:12694800-12697200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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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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