Variant report

Variant	rs73246551
Chromosome Location	chr14:36490375-36490376
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10134855	1.00[AMR][1000 genomes]
rs10151821	1.00[AMR][1000 genomes]
rs11156901	1.00[AMR][1000 genomes]
rs1123749	1.00[AMR][1000 genomes]
rs28376637	1.00[AMR][1000 genomes]
rs28714317	1.00[AMR][1000 genomes]
rs28756783	1.00[AMR][1000 genomes]
rs7149973	1.00[AMR][1000 genomes]
rs7157182	1.00[AMR][1000 genomes]
rs73246547	1.00[AMR][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	nsv1051045	chr14:36116503-36764947	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv542038	chr14:36116503-36764947	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv530036	chr14:36165220-36499370	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1051147	chr14:36413342-36562863	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr14:36482400-36492400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:36488200-36490400	Enhancers	Brain Substantia Nigra	brain
3	chr14:36488200-36491200	Enhancers	Brain Germinal Matrix	brain
4	chr14:36489000-36492600	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr14:36489200-36492600	Active TSS	Brain Anterior Caudate	brain
6	chr14:36489200-36493200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:36489400-36490400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:36489400-36490600	Enhancers	Brain Angular Gyrus	brain
9	chr14:36489600-36490400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr14:36489600-36492200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr14:36489600-36492600	Active TSS	Brain Cingulate Gyrus	brain
12	chr14:36489800-36491400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:36490000-36490400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:36490000-36490400	Active TSS	Brain Hippocampus Middle	brain
15	chr14:36490000-36490600	Enhancers	GM12878-XiMat	blood
16	chr14:36490200-36490600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:36490200-36492400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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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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