Variant report

Variant	rs8112656
Chromosome Location	chr19:44304640-44304641
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11666403	0.97[ASN][1000 genomes]
rs11879355	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3786956	0.82[CHB][hapmap];0.90[CHD][hapmap];0.92[JPT][hapmap]
rs62116989	0.96[ASN][1000 genomes]
rs62116993	0.92[ASN][1000 genomes]
rs62116994	0.97[ASN][1000 genomes]
rs62116995	0.97[ASN][1000 genomes]
rs62116996	0.97[ASN][1000 genomes]
rs62116997	0.97[ASN][1000 genomes]
rs62116998	0.97[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs8112656	SIGLEC16	cis	parietal	SCAN
rs8112656	CCDC155	cis	parietal	SCAN
rs8112656	SCAF1	cis	cerebellum	SCAN
rs8112656	KCNC3	cis	cerebellum	SCAN
rs8112656	IGFL2	cis	parietal	SCAN
rs8112656	PRKD2	cis	parietal	SCAN
rs8112656	ZNF350	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44303400-44305000	Weak transcription	Right Atrium	heart
2	chr19:44304200-44308600	Weak transcription	K562	blood
3	chr19:44304600-44309000	Weak transcription	Spleen	Spleen
4	chr19:44304600-44310200	Weak transcription	HMEC	breast
5	chr19:44304600-44310200	Weak transcription	NHEK	skin

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