Variant report

Variant	rs60549453
Chromosome Location	chr8:2174217-2174218
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:8)

rs_ID	r²[population]
rs11990262	1.00[EUR][1000 genomes]
rs11990352	1.00[EUR][1000 genomes]
rs17752935	1.00[EUR][1000 genomes]
rs57660522	1.00[EUR][1000 genomes]
rs58126128	1.00[EUR][1000 genomes]
rs61687090	1.00[EUR][1000 genomes]
rs73559820	1.00[EUR][1000 genomes]
rs73559825	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2164600-2184400	Weak transcription	Spleen	Spleen
2	chr8:2170600-2176000	Enhancers	Fetal Brain Male	brain
3	chr8:2173600-2178000	Weak transcription	Fetal Kidney	kidney
4	chr8:2174000-2174800	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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