Variant report

Variant	rs58259073
Chromosome Location	chr14:56370819-56370820
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12435758	0.98[ASN][1000 genomes]
rs12588046	0.92[ASN][1000 genomes]
rs12588536	1.00[ASN][1000 genomes]
rs57760336	1.00[ASN][1000 genomes]
rs59107043	0.94[ASN][1000 genomes]
rs8016445	0.81[ASN][1000 genomes]
rs8016568	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv34106	chr14:56346245-56550642	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56359800-56374400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr14:56368200-56374800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:56369400-56372600	Weak transcription	Aorta	Aorta
4	chr14:56370200-56371400	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr14:56370200-56371600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:56370400-56371800	Enhancers	HSMMtube	muscle
7	chr14:56370600-56371000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr14:56370600-56371400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr14:56370600-56371400	Enhancers	Brain Anterior Caudate	brain
10	chr14:56370600-56371400	Enhancers	Psoas Muscle	Psoas
11	chr14:56370600-56371400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr14:56370600-56371600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:56370800-56371000	Active TSS	Brain Cingulate Gyrus	brain
14	chr14:56370800-56371400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:56370800-56371400	Enhancers	Brain Angular Gyrus	brain
16	chr14:56370800-56371400	Enhancers	Brain Hippocampus Middle	brain
17	chr14:56370800-56371400	Enhancers	Brain Substantia Nigra	brain

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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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