Variant report

Variant	rs12147116
Chromosome Location	chr14:46625681-46625682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10135336	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10135357	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10147660	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10483596	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11845468	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11848022	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11848051	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11848919	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11849762	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1371163	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1371164	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1439172	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1439173	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1439174	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17658591	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17658969	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17659630	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17670724	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17737767	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17738186	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17738209	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17738227	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17738263	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17738338	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28507146	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28708974	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28720829	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55718816	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55762685	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55826483	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56018325	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56164966	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56242920	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56246434	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60002757	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6572356	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66531414	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66587305	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67816150	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7148358	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7149468	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7150003	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7151950	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7152359	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7152370	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7153328	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7157959	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684687	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72686620	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72686622	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72686632	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72686636	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72686641	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72686643	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72686645	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73246880	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8017858	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564730	chr14:46122141-46729024	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv516946	chr14:46361884-46653871	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2761344	chr14:46428083-46698317	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv901858	chr14:46435899-46653871	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1036267	chr14:46491828-46804734	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv901859	chr14:46504122-46698056	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv470644	chr14:46504122-46799990	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1042746	chr14:46527381-46781893	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1050269	chr14:46527381-46936207	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv456288	chr14:46531972-46799990	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv564736	chr14:46531972-46799990	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv456289	chr14:46552854-46672635	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv564737	chr14:46552854-46672635	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv456290	chr14:46586783-46659474	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
15	nsv564738	chr14:46586783-46659474	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
16	nsv1036719	chr14:46588181-46873231	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46625400-46626000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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