Variant report

Variant	rs56176047
Chromosome Location	chr14:70321227-70321228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11626145	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11628031	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11628994	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2148500	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56387453	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61408837	0.82[AMR][1000 genomes]
rs72725776	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs72725780	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs72725792	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72725793	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72725794	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72725798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72725799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725801	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	esv3427556	chr14:70321168-70321661	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70316600-70321800	Weak transcription	Hela-S3	cervix
2	chr14:70317200-70325600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:70318000-70323200	Enhancers	HepG2	liver
4	chr14:70319200-70323200	Enhancers	Brain Germinal Matrix	brain
5	chr14:70320200-70325400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:70320800-70323000	Weak transcription	Placenta	Placenta
7	chr14:70320800-70325600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:70321000-70322000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:70321200-70321400	Enhancers	Fetal Brain Male	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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