Variant report

Variant	rs60052467
Chromosome Location	chr19:43155127-43155128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10402361	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10402401	0.89[EUR][1000 genomes]
rs10402677	0.80[AMR][1000 genomes]
rs10403979	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10404509	0.89[EUR][1000 genomes]
rs10405646	0.80[AMR][1000 genomes]
rs10407178	0.82[EUR][1000 genomes]
rs10407576	0.84[EUR][1000 genomes]
rs10411165	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10411945	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10412463	0.83[AMR][1000 genomes]
rs10414602	0.85[EUR][1000 genomes]
rs10415564	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10417418	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10417693	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10420164	0.86[EUR][1000 genomes]
rs10420796	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10421108	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10421620	0.81[EUR][1000 genomes]
rs10421881	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10422573	0.85[EUR][1000 genomes]
rs10425241	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469271	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10469286	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11083659	0.84[EUR][1000 genomes]
rs11666835	0.80[AMR][1000 genomes]
rs11666862	0.80[AMR][1000 genomes]
rs11669892	0.83[EUR][1000 genomes]
rs11882882	0.89[EUR][1000 genomes]
rs1859341	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2267631	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28447294	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2883270	0.81[EUR][1000 genomes]
rs4499340	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56237547	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56978333	0.83[EUR][1000 genomes]
rs59525393	0.88[EUR][1000 genomes]
rs61246582	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6509020	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7247618	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7248042	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7248297	0.82[EUR][1000 genomes]
rs7249411	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7253209	0.84[EUR][1000 genomes]
rs73562329	0.89[EUR][1000 genomes]
rs758034	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8103285	0.80[AMR][1000 genomes]
rs8106083	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8107152	0.80[AMR][1000 genomes]
rs8108816	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8110766	0.81[EUR][1000 genomes]
rs8110917	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9304604	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9807808	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9807920	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	esv2422468	chr19:42991289-43669027	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1057390	chr19:43003323-43173028	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv482597	chr19:43037214-43222644	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2758501	chr19:43042747-43899053	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	esv2758763	chr19:43042747-43899053	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv428023	chr19:43042747-43899053	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	esv2422227	chr19:43059426-43669485	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv1064734	chr19:43076046-43182478	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1058936	chr19:43082848-43228161	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv3368556	chr19:43121424-43180449	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1063042	chr19:43139043-43175294	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv1056270	chr19:43139043-43542819	Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv544007	chr19:43141984-43529861	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv1061798	chr19:43141984-43741311	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	nsv544008	chr19:43141984-43741311	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	esv2754239	chr19:43145417-43559330	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	esv1845826	chr19:43152829-43454902	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43150600-43159800	Weak transcription	Brain Hippocampus Middle	brain
2	chr19:43153200-43158000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:43154400-43156000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr19:43154800-43159800	Weak transcription	Brain Inferior Temporal Lobe	brain

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