Variant report

Variant	rs60519985
Chromosome Location	chr5:167268212-167268213
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10056158	1.00[EUR][1000 genomes]
rs10063203	1.00[EUR][1000 genomes]
rs13354770	1.00[EUR][1000 genomes]
rs13361271	1.00[EUR][1000 genomes]
rs13361323	1.00[EUR][1000 genomes]
rs13361359	1.00[EUR][1000 genomes]
rs13361383	1.00[EUR][1000 genomes]
rs1972621	1.00[AMR][1000 genomes]
rs28590401	1.00[EUR][1000 genomes]
rs57053085	1.00[AMR][1000 genomes]
rs57599895	1.00[AMR][1000 genomes]
rs58820246	1.00[EUR][1000 genomes]
rs59859592	1.00[EUR][1000 genomes]
rs60201000	1.00[AMR][1000 genomes]
rs60431833	1.00[AMR][1000 genomes]
rs6865076	1.00[AMR][1000 genomes]
rs73370917	1.00[EUR][1000 genomes]
rs73370924	1.00[EUR][1000 genomes]
rs73370925	1.00[AMR][1000 genomes]
rs73370952	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73370968	1.00[AMR][1000 genomes]
rs73370976	1.00[AMR][1000 genomes]
rs73370977	1.00[AMR][1000 genomes]
rs73370980	1.00[AMR][1000 genomes]
rs73370984	1.00[AMR][1000 genomes]
rs73370987	1.00[AMR][1000 genomes]
rs73370988	1.00[AMR][1000 genomes]
rs73370989	1.00[AMR][1000 genomes]
rs73370990	1.00[AMR][1000 genomes]
rs7704178	1.00[EUR][1000 genomes]
rs7723890	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167248600-167270000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:167251800-167299000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:167252600-167276000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:167262800-167270600	Weak transcription	HSMM	muscle
5	chr5:167263200-167271200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:167264200-167269600	Weak transcription	Aorta	Aorta
7	chr5:167266600-167326200	Weak transcription	HMEC	breast
8	chr5:167266800-167272800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:167267200-167271200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:167267400-167270000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:167267600-167269000	Weak transcription	NHEK	skin
12	chr5:167267800-167272800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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