Variant report

Variant	rs59834048
Chromosome Location	chr14:72776978-72776979
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11846819	0.88[AFR][1000 genomes]
rs11849909	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7144256	1.00[AMR][1000 genomes]
rs73301160	1.00[AMR][1000 genomes]
rs73302859	1.00[AMR][1000 genomes]
rs73302888	1.00[AMR][1000 genomes]
rs73302898	1.00[AMR][1000 genomes]
rs73304937	0.82[AFR][1000 genomes]
rs73304976	0.82[AFR][1000 genomes]
rs8021617	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72775000-72778800	Enhancers	Fetal Kidney	kidney
2	chr14:72775000-72779400	Enhancers	Fetal Lung	lung
3	chr14:72775400-72780200	Enhancers	Colon Smooth Muscle	Colon
4	chr14:72775400-72782800	Enhancers	Fetal Stomach	stomach
5	chr14:72775600-72779400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:72775800-72777000	Enhancers	Fetal Intestine Large	intestine
7	chr14:72775800-72780200	Enhancers	Ovary	ovary
8	chr14:72776000-72778600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr14:72776200-72777400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:72776400-72779000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:72776600-72779000	Enhancers	Brain Germinal Matrix	brain
12	chr14:72776800-72777000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:72776800-72777600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:72776800-72777600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:72776800-72777600	Enhancers	Left Ventricle	heart
16	chr14:72776800-72777800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:72776800-72778400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr14:72776800-72779400	Weak transcription	Fetal Heart	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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