Variant report

Variant	rs73760546
Chromosome Location	chr5:61375866-61375867
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55640425	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73114049	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73760543	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7715895	0.91[AFR][1000 genomes];0.91[AMR][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	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv881725	chr5:61265820-61376320	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv830317	chr5:61298840-61478113	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61374200-61376800	Weak transcription	NHEK	skin
2	chr5:61374200-61377000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:61374200-61377200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:61374200-61377200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:61374400-61376600	Weak transcription	HMEC	breast
6	chr5:61375400-61377400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:61375600-61378000	Weak transcription	HUES64 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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