Variant report

Variant	rs379999
Chromosome Location	chr14:56523506-56523507
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs369464	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs392398	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs413986	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs424579	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs441484	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs442402	1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56515200-56525400	Weak transcription	Fetal Intestine Large	intestine
2	chr14:56521600-56524400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr14:56522000-56524400	Enhancers	Fetal Brain Male	brain
4	chr14:56522400-56524400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:56522400-56524400	Enhancers	Brain Substantia Nigra	brain
6	chr14:56522600-56523800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:56522600-56523800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:56523000-56524000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:56523000-56524000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr14:56523000-56524400	Enhancers	Brain Hippocampus Middle	brain
11	chr14:56523000-56524600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:56523200-56524000	Enhancers	Brain Germinal Matrix	brain
13	chr14:56523200-56524400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr14:56523200-56524400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr14:56523200-56525600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:56523400-56524200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:56523400-56525000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:56523400-56525600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:56523400-56525800	Weak transcription	Brain Anterior Caudate	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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