Variant report

Variant	rs379758
Chromosome Location	chr19:44298162-44298163
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10426849	0.88[ASN][1000 genomes]
rs11666781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11673595	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11673603	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12461670	0.85[ASN][1000 genomes]
rs1865108	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs189445	1.00[ASW][hapmap];0.95[CHD][hapmap];0.82[MEX][hapmap]
rs34257765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34424221	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs349026	0.81[JPT][hapmap]
rs349027	1.00[ASW][hapmap];0.93[CHD][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap]
rs349035	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs349036	1.00[ASW][hapmap];0.92[CHD][hapmap];0.83[MEX][hapmap]
rs349054	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs349056	0.93[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs797272	0.91[ASN][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	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs379758	SAE1	cis	cerebellum	SCAN
rs379758	PVR	cis	parietal	SCAN
rs379758	KCNN4	cis	multi-tissue	Pritchard
rs379758	SIGLEC11	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44289400-44302600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:44289800-44300800	Weak transcription	Placenta	Placenta
3	chr19:44290000-44302400	Weak transcription	NHEK	skin
4	chr19:44290200-44302200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr19:44297400-44298400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:44297400-44298400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

Quick Search:

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

what's new

Quick links