Variant report

Variant	rs56249045
Chromosome Location	chr14:70029274-70029275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1957369	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2332094	0.82[AMR][1000 genomes]
rs4899303	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4899304	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902728	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55727771	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55817110	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55923041	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56791796	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57769796	0.89[ASN][1000 genomes]
rs61980683	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61980684	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61980693	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61980724	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61982438	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61982440	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6573892	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7141009	0.89[ASN][1000 genomes]
rs7151003	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8006991	0.82[AMR][1000 genomes]
rs873176	0.88[ASN][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	nsv510642	chr14:69983293-70030335	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv564970	chr14:70000399-70040161	Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv94	chr14:70002365-70030415	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1334	chr14:70002365-70032641	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2760340	chr14:70013752-70032826	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
6	esv1825293	chr14:70020620-70039587	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70025400-70029800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr14:70027000-70029400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:70027800-70029400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr14:70027800-70036800	Weak transcription	Brain Germinal Matrix	brain
5	chr14:70028000-70029600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr14:70028000-70034800	Weak transcription	Fetal Brain Male	brain
7	chr14:70028000-70035200	Weak transcription	Fetal Brain Female	brain
8	chr14:70028600-70029400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:70029000-70029600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:70029000-70036800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:70029000-70036800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:70029200-70029600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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