Variant report

Variant	rs16992012
Chromosome Location	chr22:33652179-33652180
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11913122	1.00[EUR][1000 genomes]
rs11913247	1.00[EUR][1000 genomes]
rs11913820	1.00[EUR][1000 genomes]
rs11913962	1.00[EUR][1000 genomes]
rs11914009	1.00[EUR][1000 genomes]
rs12158409	1.00[EUR][1000 genomes]
rs12158415	1.00[EUR][1000 genomes]
rs12159214	1.00[EUR][1000 genomes]
rs12166563	1.00[EUR][1000 genomes]
rs16991916	1.00[EUR][1000 genomes]
rs16991969	1.00[EUR][1000 genomes]
rs2413177	1.00[EUR][1000 genomes]
rs56660136	1.00[EUR][1000 genomes]
rs56784849	1.00[EUR][1000 genomes]
rs57743865	1.00[EUR][1000 genomes]
rs58499026	1.00[EUR][1000 genomes]
rs58653235	1.00[EUR][1000 genomes]
rs59142382	1.00[EUR][1000 genomes]
rs59845765	1.00[EUR][1000 genomes]
rs5994714	1.00[EUR][1000 genomes]
rs5998838	1.00[EUR][1000 genomes]
rs5998840	1.00[EUR][1000 genomes]
rs5998841	1.00[EUR][1000 genomes]
rs5998848	1.00[EUR][1000 genomes]
rs5998853	1.00[EUR][1000 genomes]
rs5998854	1.00[EUR][1000 genomes]
rs5998856	1.00[EUR][1000 genomes]
rs5998857	1.00[EUR][1000 genomes]
rs60578463	1.00[EUR][1000 genomes]
rs6518814	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73403398	1.00[EUR][1000 genomes]
rs73405312	1.00[EUR][1000 genomes]
rs73405344	1.00[EUR][1000 genomes]
rs73405383	1.00[EUR][1000 genomes]
rs73885004	1.00[EUR][1000 genomes]
rs741979	1.00[EUR][1000 genomes]
rs743792	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8136395	1.00[EUR][1000 genomes]
rs9621628	1.00[EUR][1000 genomes]
rs9621640	1.00[EUR][1000 genomes]
rs9621642	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1067068	chr22:33452180-33851033	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv1056019	chr22:33527873-33657289	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv933455	chr22:33532697-33915429	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1065926	chr22:33602852-33658189	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv544681	chr22:33602852-33658189	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1064192	chr22:33615699-33741836	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1059927	chr22:33615699-33904339	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
10	nsv544682	chr22:33615699-33904339	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1060316	chr22:33644676-33737725	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1056097	chr22:33650328-33733456	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr22:33651200-33652400	Enhancers	GM12878-XiMat	blood
2	chr22:33651400-33652800	Enhancers	Primary B cells from peripheral blood	blood
3	chr22:33651600-33652200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr22:33651600-33652400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:33651600-33652400	Enhancers	Liver	Liver
6	chr22:33651600-33652600	Enhancers	Primary B cells from cord blood	blood
7	chr22:33651800-33652200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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