Variant report

Variant	rs56017480
Chromosome Location	chr14:70379430-70379431
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10133443	0.93[ASN][1000 genomes]
rs2475399	1.00[AMR][1000 genomes]
rs59439776	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59968000	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7158188	0.93[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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv523796	chr14:70374122-70386743	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70364000-70387600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:70368800-70379600	Weak transcription	Liver	Liver
3	chr14:70372000-70388600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:70372400-70382600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:70373600-70383600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:70377400-70384000	Weak transcription	Fetal Brain Male	brain
7	chr14:70377800-70394400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:70378000-70379800	Weak transcription	Fetal Stomach	stomach
9	chr14:70378000-70382000	Weak transcription	Hela-S3	cervix
10	chr14:70378200-70384000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:70378400-70388000	Weak transcription	Brain Substantia Nigra	brain
12	chr14:70378600-70381800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:70379200-70383800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr14:70379400-70380200	Enhancers	HepG2	liver
15	chr14:70379400-70381200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:70379400-70381200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	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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