Variant report

Variant	rs847358
Chromosome Location	chr14:72780521-72780522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2529453	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs847335	0.80[AMR][1000 genomes]
rs847336	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs847355	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs847365	0.87[CEU][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.82[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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs847358	C14orf43	cis	cerebellum	SCAN
rs847358	COX16	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72775400-72782800	Enhancers	Fetal Stomach	stomach
2	chr14:72778000-72781400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr14:72778000-72782400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:72779400-72780600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:72779400-72781000	Weak transcription	Fetal Lung	lung
6	chr14:72779600-72781200	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:72780200-72781200	Weak transcription	Colon Smooth Muscle	Colon

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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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