Variant report

Variant	rs2442119
Chromosome Location	chr5:118300111-118300112
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2442122	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs439156	0.92[AMR][1000 genomes]
rs6893733	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6894429	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7736118	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1017548	chr5:118276479-118358394	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1015878	chr5:118288904-118414706	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537881	chr5:118288904-118414706	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118225400-118300400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:118259600-118305000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr5:118263000-118306000	Weak transcription	Primary T cells from cord blood	blood
4	chr5:118263400-118304000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr5:118282200-118304200	Weak transcription	Right Atrium	heart
6	chr5:118294400-118304200	Weak transcription	Left Ventricle	heart
7	chr5:118296800-118314400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:118299400-118304600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:118299800-118304200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:118300000-118300800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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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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