Variant report

Variant	rs2283376
Chromosome Location	chr14:72959291-72959292
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2074953	0.88[EUR][1000 genomes]
rs2239272	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2239277	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35573236	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72949400-72962600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:72953600-72961200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:72956600-72980400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:72956800-72962200	Weak transcription	Adipose Nuclei	Adipose
5	chr14:72958400-72961000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
6	chr14:72958600-72959600	Enhancers	Placenta	Placenta
7	chr14:72959000-72959600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:72959200-72959800	Enhancers	Placenta Amnion	Placenta Amnion

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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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