Variant report

Variant	rs72718217
Chromosome Location	chr14:69456753-69456754
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10131417	0.93[EUR][1000 genomes]
rs11846999	0.93[EUR][1000 genomes]
rs11847083	0.93[EUR][1000 genomes]
rs11850741	0.91[EUR][1000 genomes]
rs17758097	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17835991	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2284906	0.93[EUR][1000 genomes]
rs58291960	0.93[EUR][1000 genomes]
rs67356344	0.93[EUR][1000 genomes]
rs7144924	0.90[EUR][1000 genomes]
rs72718210	0.91[EUR][1000 genomes]
rs72718212	0.96[EUR][1000 genomes]
rs72718216	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs730635	0.95[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	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69447000-69471400	Weak transcription	Esophagus	oesophagus
2	chr14:69449200-69458400	Weak transcription	HUVEC	blood vessel
3	chr14:69453400-69460600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr14:69454800-69457400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr14:69454800-69461200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr14:69455600-69465200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:69456000-69464400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:69456000-69471200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:69456200-69456800	Enhancers	iPS-20b 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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