Variant report

Variant	rs2424445
Chromosome Location	chr20:22636562-22636563
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22635762..22637997-chr20:22639444..22642295,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1543443	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2145058	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2145059	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2145060	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2145061	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2180553	0.87[ASN][1000 genomes]
rs2424442	0.80[ASN][1000 genomes]
rs2424443	0.80[ASN][1000 genomes]
rs2424446	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2424447	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424448	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424450	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2424451	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2424454	0.81[EUR][1000 genomes]
rs2424456	0.84[EUR][1000 genomes]
rs2424457	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2424458	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4815129	0.86[AMR][1000 genomes]
rs4815131	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4815132	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4815133	0.82[EUR][1000 genomes]
rs4815134	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6036168	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6036169	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6036172	0.91[ASN][1000 genomes]
rs6048241	0.91[ASN][1000 genomes]
rs6075933	0.91[ASN][1000 genomes]
rs6075934	0.91[ASN][1000 genomes]
rs6082762	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6082767	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6082777	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6113758	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6113762	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73304706	0.91[ASN][1000 genomes]
rs747912	0.87[ASN][1000 genomes]
rs975525	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428690	chr20:22528757-22649625	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1064571	chr20:22601105-22645251	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv3442827	chr20:22632852-22637550	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	esv3379368	chr20:22633452-22636850	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
5	esv3346402	chr20:22633652-22636850	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22634000-22643400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:22634200-22639400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr20:22634400-22639000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr20:22634400-22639600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr20:22634400-22643800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr20:22636200-22643400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr20:22636400-22639600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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