Variant report

Variant	rs73291625
Chromosome Location	chr14:39960104-39960105
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17109283	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109326	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56927251	0.97[AFR][1000 genomes]
rs57713609	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58650754	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59467968	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7140496	0.88[AFR][1000 genomes]
rs7142564	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7153086	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283459	0.80[AFR][1000 genomes]
rs73285561	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285577	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285584	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287551	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287561	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287568	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73289604	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293640	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8020247	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3523177	chr14:39875036-40128325	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv3523178	chr14:39875036-40128325	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv832774	chr14:39897746-40060823	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv915558	chr14:39944831-40165370	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv456212	chr14:39957437-40096888	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv564418	chr14:39957437-40096888	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39958200-39960600	Weak transcription	Brain Hippocampus Middle	brain
2	chr14:39958200-39964800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr14:39958200-39968600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:39958400-39960400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr14:39958400-39960400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:39958600-39960600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:39958800-39960600	Weak transcription	Brain Germinal Matrix	brain
8	chr14:39959200-39960600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:39959400-39960600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:39959600-39960600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:39959800-39960200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:39960000-39960400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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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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