Variant report

Variant	rs60059053
Chromosome Location	chr14:68341426-68341427
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17104673	0.87[AFR][1000 genomes]
rs17104683	0.87[AFR][1000 genomes]
rs17104753	0.87[AFR][1000 genomes]
rs33929366	0.87[AFR][1000 genomes]
rs73280420	0.87[AFR][1000 genomes]
rs73280453	1.00[AFR][1000 genomes]
rs73280460	1.00[AFR][1000 genomes]
rs73280462	1.00[AFR][1000 genomes]
rs73280485	0.87[AFR][1000 genomes]
rs73280488	0.87[AFR][1000 genomes]
rs73280489	0.87[AFR][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	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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 miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68324600-68354800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:68328000-68367800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:68331600-68357000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:68334200-68348200	Weak transcription	Lung	lung
5	chr14:68334600-68367600	Weak transcription	Primary B cells from cord blood	blood
6	chr14:68335200-68343400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:68335200-68348000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:68341000-68342800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:68341200-68342600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr14:68341400-68341800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr14:68341400-68342600	Enhancers	Primary T helper naive cells from peripheral blood	blood

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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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