Variant report

Variant	rs60294165
Chromosome Location	chr5:60436204-60436205
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10452451	1.00[AMR][1000 genomes]
rs16878537	0.93[AFR][1000 genomes]
rs16878565	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1841504	0.86[AFR][1000 genomes]
rs56132498	1.00[AMR][1000 genomes]
rs58096884	1.00[AMR][1000 genomes]
rs58859855	1.00[AMR][1000 genomes]
rs60328915	1.00[AMR][1000 genomes]
rs61277564	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61332980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6870631	0.93[AFR][1000 genomes]
rs73759468	0.93[AFR][1000 genomes]
rs73759469	0.93[AFR][1000 genomes]
rs73759470	0.90[AFR][1000 genomes]
rs73759471	0.93[AFR][1000 genomes]
rs73759472	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759474	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759487	1.00[AMR][1000 genomes]
rs73759490	1.00[AMR][1000 genomes]
rs7717284	0.93[AFR][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	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598314	chr5:60374912-60459040	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60398800-60453800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:60417200-60449400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr5:60428600-60452000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:60434400-60449600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:60436000-60437200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:60436000-60457600	Weak transcription	Esophagus	oesophagus

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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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