Variant report

Variant	rs238642
Chromosome Location	chr20:23510512-23510513
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1155363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs171157	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2208281	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs238641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs238646	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs238647	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs238650	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs238652	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs238656	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs238658	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs238659	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs238660	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs238663	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs238664	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs238665	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs238666	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs238667	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs238669	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs238670	0.83[AMR][1000 genomes]
rs238671	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2983601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2983606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2983612	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2983643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3004124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3004129	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3004130	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3004131	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3004133	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912818	chr20:23406519-23567838	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv912819	chr20:23406519-23569400	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv912820	chr20:23406519-23578148	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1065390	chr20:23412890-23569238	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1065719	chr20:23415029-23565333	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv544214	chr20:23415029-23565333	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv470544	chr20:23424638-23569400	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv585722	chr20:23424638-23569400	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv458949	chr20:23426648-23569400	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv585723	chr20:23426648-23569400	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv1057992	chr20:23430887-23565333	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv544215	chr20:23430887-23565333	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23509200-23510600	Enhancers	H1 Cell Line	embryonic stem cell
2	chr20:23510200-23510800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr20:23510400-23511800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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