Variant report

Variant	rs1442996
Chromosome Location	chr18:28066279-28066280
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]
rs10468899	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1348337	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1372945	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1442986	0.83[EUR][1000 genomes]
rs2034053	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62078270	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6508690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7234866	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7243927	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8089627	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9954144	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9956723	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9962285	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9989591	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9989594	0.89[EUR][1000 genomes];0.93[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	nsv1057946	chr18:27239754-28146129	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
2	nsv576600	chr18:27423375-28197518	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
3	esv34009	chr18:27957966-28115014	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28065000-28068800	Enhancers	HMEC	breast
2	chr18:28065000-28068800	Enhancers	NHEK	skin
3	chr18:28065200-28067200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr18:28065200-28068800	Enhancers	HSMM	muscle
5	chr18:28065400-28066400	Weak transcription	NH-A	brain
6	chr18:28066000-28066400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr18:28066200-28067000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr18:28066200-28068200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:28066200-28068800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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