Variant report

Variant	rs59245863
Chromosome Location	chr14:72967795-72967796
allele	A/C/G
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:5)

rs_ID	r²[population]
rs4441203	0.94[ASN][1000 genomes]
rs56771173	0.88[ASN][1000 genomes]
rs60642139	0.88[ASN][1000 genomes]
rs61192266	0.91[ASN][1000 genomes]
rs74063449	1.00[AMR][1000 genomes];0.94[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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72956600-72980400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:72965400-72967800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:72965400-72970800	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:72966600-72968000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr14:72967000-72967800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:72967200-72968000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:72967600-72970400	Weak transcription	HMEC	breast

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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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