Variant report

Variant	rs6114085
Chromosome Location	chr20:23419276-23419277
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23342185..23344395-chr20:23415797..23420151,3	K562	blood:

Variant related genes	Relation type
ENSG00000125812	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1419009	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1419010	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16985308	0.86[EUR][1000 genomes]
rs1936013	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2051093	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2144381	0.87[EUR][1000 genomes]
rs2224074	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2236022	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2249943	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2251145	0.87[EUR][1000 genomes]
rs2252824	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2275787	0.85[EUR][1000 genomes]
rs2275788	0.85[EUR][1000 genomes]
rs2281429	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2424528	0.85[EUR][1000 genomes]
rs2424530	0.87[EUR][1000 genomes]
rs2424531	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2424532	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2424534	0.87[EUR][1000 genomes]
rs2424535	0.82[EUR][1000 genomes]
rs2424536	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2424537	0.87[EUR][1000 genomes]
rs2424539	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2424540	0.84[EUR][1000 genomes]
rs2424541	0.87[EUR][1000 genomes]
rs2424544	0.87[EUR][1000 genomes]
rs2424545	0.87[EUR][1000 genomes]
rs2424546	0.87[EUR][1000 genomes]
rs2424548	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2424549	0.87[EUR][1000 genomes]
rs2424550	0.87[EUR][1000 genomes]
rs2424551	0.87[EUR][1000 genomes]
rs2424552	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2424554	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2424556	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424557	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3746734	0.85[EUR][1000 genomes]
rs4813493	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4813495	0.87[EUR][1000 genomes]
rs4815199	0.85[EUR][1000 genomes]
rs4815203	0.87[EUR][1000 genomes]
rs6076071	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6076073	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6083083	0.80[EUR][1000 genomes]
rs6083087	0.85[EUR][1000 genomes]
rs6083088	0.85[EUR][1000 genomes]
rs6083092	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6083095	0.85[EUR][1000 genomes]
rs6083099	0.86[EUR][1000 genomes]
rs6083100	0.86[EUR][1000 genomes]
rs6083104	0.87[EUR][1000 genomes]
rs6083110	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6083111	0.87[EUR][1000 genomes]
rs6083119	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6132604	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6132607	0.87[EUR][1000 genomes]
rs6132612	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6137905	0.85[EUR][1000 genomes]
rs6137908	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6137909	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6137922	0.88[EUR][1000 genomes]
rs6137924	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6137934	0.87[EUR][1000 genomes]
rs6137940	0.87[EUR][1000 genomes]
rs6137949	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7269627	0.86[EUR][1000 genomes]
rs743022	0.87[EUR][1000 genomes]
rs743023	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs743024	0.85[EUR][1000 genomes]
rs761726	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7988	0.85[EUR][1000 genomes]
rs8183442	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063655	chr20:23396649-23489730	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6114085	NAPB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23417000-23422800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23417200-23434800	Weak transcription	Gastric	stomach
3	chr20:23417600-23422400	Weak transcription	Brain Anterior Caudate	brain
4	chr20:23417800-23441000	Weak transcription	Right Atrium	heart
5	chr20:23419000-23419400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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