Variant report

Variant	rs12590819
Chromosome Location	chr14:79064462-79064463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12590740	0.99[ASN][1000 genomes]
rs17107898	0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17107900	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17107912	0.87[GIH][hapmap]
rs17108021	0.87[GIH][hapmap]
rs2287495	0.87[GIH][hapmap]
rs57388154	1.00[ASN][1000 genomes]
rs58722248	0.81[EUR][1000 genomes]
rs61976084	0.81[EUR][1000 genomes]
rs61976085	0.81[EUR][1000 genomes]
rs61976086	0.81[EUR][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	esv2760000	chr14:78875607-79173528	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2758363	chr14:78903610-79173528	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv34435	chr14:79055398-79111151	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	esv2757578	chr14:79055398-79140536	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12590819	FCER2	trans	brain	seeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79059400-79064800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:79061600-79065600	Enhancers	Brain Germinal Matrix	brain
3	chr14:79062400-79064600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:79062800-79064600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:79063000-79064600	Weak transcription	NHDF-Ad	bronchial
6	chr14:79063400-79071800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:79063800-79065000	Enhancers	Fetal Brain Female	brain
8	chr14:79064000-79065400	Enhancers	Fetal Brain Male	brain
9	chr14:79064200-79064600	Enhancers	Brain Anterior Caudate	brain
10	chr14:79064200-79064600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr14:79064200-79064800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
12	chr14:79064200-79064800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:79064200-79065000	Enhancers	Brain Substantia Nigra	brain
14	chr14:79064400-79064600	Enhancers	Brain Hippocampus Middle	brain
15	chr14:79064400-79064800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr14:79064400-79064800	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr14:79064400-79065000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr14:79064400-79065000	Enhancers	Foreskin Melanocyte Primary Cells skin01	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