Variant report

Variant	rs11623366
Chromosome Location	chr14:71715570-71715571
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10131152	0.84[AMR][1000 genomes]
rs11627196	0.85[MEX][hapmap]
rs17109223	0.85[MEX][hapmap];0.84[AMR][1000 genomes]
rs2007422	0.81[ASN][1000 genomes]
rs56333151	0.82[AMR][1000 genomes]
rs61496121	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1044090	chr14:71496198-71780026	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv832827	chr14:71676178-71833519	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11623366	LRRN1	trans	cerebellum	SCAN
rs11623366	ACOT1	cis	cerebellum	SCAN
rs11623366	SMOC1	cis	parietal	SCAN
rs11623366	SLC39A5	trans	parietal	SCAN
rs11623366	ACOT2	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71709600-71717800	Weak transcription	Fetal Lung	lung
2	chr14:71713200-71715600	Enhancers	Osteobl	bone
3	chr14:71713400-71715800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:71714000-71717200	Weak transcription	Primary T cells from cord blood	blood
5	chr14:71714200-71716600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:71714200-71716800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr14:71714800-71715600	Enhancers	Fetal Heart	heart
8	chr14:71714800-71715800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr14:71715000-71715800	Enhancers	Hela-S3	cervix
10	chr14:71715400-71715600	Enhancers	HMEC	breast
11	chr14:71715400-71719600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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