Variant report

Variant	rs720391
Chromosome Location	chr14:72450542-72450543
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10150071	0.85[ASN][1000 genomes]
rs10483838	0.92[EUR][1000 genomes]
rs12884777	0.83[ASN][1000 genomes]
rs17104975	0.80[ASN][1000 genomes]
rs17104979	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17105032	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105061	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860105	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1989628	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2190872	0.91[ASN][1000 genomes]
rs2238274	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2238275	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2238276	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2238278	0.91[ASN][1000 genomes]
rs2238283	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2238285	0.83[EUR][1000 genomes]
rs2283422	0.83[ASN][1000 genomes]
rs2332701	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902960	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902961	0.86[ASN][1000 genomes]
rs4902965	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56661004	0.83[ASN][1000 genomes]
rs56731686	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58002698	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59307289	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60545259	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7143919	0.85[ASN][1000 genomes]
rs7156200	0.83[ASN][1000 genomes]
rs73293246	0.83[ASN][1000 genomes]
rs74060440	0.83[ASN][1000 genomes]
rs764624	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72446000-72457000	Weak transcription	Right Ventricle	heart
2	chr14:72449400-72451400	Enhancers	Fetal Heart	heart
3	chr14:72449600-72452000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:72450200-72450600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:72450200-72453400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr14:72450400-72453000	Weak transcription	Left Ventricle	heart
7	chr14:72450400-72453200	Weak transcription	Right Atrium	heart

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