Variant report

Variant	rs3784054
Chromosome Location	chr14:72480264-72480265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10131317	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10483838	0.89[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11844049	0.88[ASN][1000 genomes]
rs11850350	0.88[ASN][1000 genomes]
rs11852205	0.88[ASN][1000 genomes]
rs17105025	0.81[JPT][hapmap]
rs17105032	0.81[JPT][hapmap]
rs17105061	0.81[JPT][hapmap]
rs1860105	0.81[JPT][hapmap]
rs2052014	0.82[CHD][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs2190872	0.81[JPT][hapmap]
rs2238266	0.93[JPT][hapmap]
rs2238274	0.81[JPT][hapmap]
rs2238276	0.81[JPT][hapmap]
rs2239266	1.00[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2332706	0.86[CHB][hapmap];0.93[CHD][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs28450218	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28644384	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28718774	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41389946	1.00[CHB][hapmap];0.96[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs41488847	0.80[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs4899413	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902960	0.81[JPT][hapmap]
rs4902965	0.81[JPT][hapmap]
rs4902972	0.86[CHB][hapmap];0.93[CHD][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs58870443	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59707038	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73293287	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs764624	0.81[JPT][hapmap]
rs8017221	0.83[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs8017799	0.83[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs966815	0.85[CHB][hapmap];0.92[JPT][hapmap];0.88[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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72479200-72481200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr14:72480200-72480400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:72480200-72480600	Enhancers	Brain Anterior Caudate	brain
4	chr14:72480200-72480600	Enhancers	Brain Substantia Nigra	brain
5	chr14:72480200-72480800	Active TSS	Brain Hippocampus Middle	brain
6	chr14:72480200-72480800	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr14:72480200-72481000	Enhancers	Brain Angular Gyrus	brain
8	chr14:72480200-72481400	Enhancers	Fetal Muscle Leg	muscle

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