Variant report

Variant	rs12590740
Chromosome Location	chr14:79064083-79064084
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12587427	1.00[EUR][1000 genomes]
rs12590819	0.99[ASN][1000 genomes]
rs17107898	0.99[ASN][1000 genomes]
rs17107907	1.00[EUR][1000 genomes]
rs17107912	1.00[EUR][1000 genomes]
rs17107986	1.00[EUR][1000 genomes]
rs17107993	1.00[EUR][1000 genomes]
rs17108021	1.00[EUR][1000 genomes]
rs2287495	1.00[EUR][1000 genomes]
rs57388154	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58271165	1.00[EUR][1000 genomes]
rs60238041	0.87[EUR][1000 genomes]
rs60568650	0.87[EUR][1000 genomes]
rs7142533	1.00[EUR][1000 genomes]
rs7148807	1.00[EUR][1000 genomes]
rs7153070	1.00[EUR][1000 genomes]
rs7153811	1.00[EUR][1000 genomes]
rs74064318	0.97[AFR][1000 genomes]
rs74064325	0.87[EUR][1000 genomes]
rs8012296	1.00[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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79059200-79064400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:79059400-79064200	Weak transcription	Brain Anterior Caudate	brain
3	chr14:79059400-79064800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:79061600-79065600	Enhancers	Brain Germinal Matrix	brain
5	chr14:79062000-79064400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr14:79062400-79064600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:79062800-79064600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:79063000-79064200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:79063000-79064600	Weak transcription	NHDF-Ad	bronchial
10	chr14:79063400-79071800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:79063800-79065000	Enhancers	Fetal Brain Female	brain
12	chr14:79064000-79065400	Enhancers	Fetal Brain Male	brain

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