Variant report

Variant	rs72681717
Chromosome Location	chr14:78636192-78636193
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10146353	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11159337	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17107085	0.86[EUR][1000 genomes]
rs28570598	0.83[ASN][1000 genomes]
rs28644780	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4903713	0.83[EUR][1000 genomes]
rs4903714	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4903716	0.95[AFR][1000 genomes]
rs4903718	0.83[EUR][1000 genomes]
rs4903721	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4903722	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7144274	0.82[EUR][1000 genomes]
rs7153461	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72681710	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72681715	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683751	0.85[EUR][1000 genomes]
rs72683755	0.83[EUR][1000 genomes]
rs741488	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8016646	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[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	nsv1366	chr14:78633044-78677718	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1038627	chr14:78635498-78657912	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78630800-78636400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr14:78630800-78636800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:78631000-78636400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr14:78631000-78636400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr14:78632400-78636800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:78636000-78636200	Flanking Active TSS	Brain Germinal Matrix	brain
7	chr14:78636000-78636200	Weak transcription	Brain Hippocampus Middle	brain
8	chr14:78636000-78636400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:78636000-78636400	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr14:78636000-78636600	Enhancers	Brain Angular Gyrus	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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