Variant report

Variant	rs2424446
Chromosome Location	chr20:22636756-22636757
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: 60 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1146365	0.81[ASN][1000 genomes]
rs1203927	0.92[CHB][hapmap]
rs1203935	0.92[CHB][hapmap]
rs1203950	0.81[ASN][1000 genomes]
rs1543443	0.83[EUR][1000 genomes]
rs1571249	0.93[CEU][hapmap]
rs1571252	0.80[CEU][hapmap]
rs2145058	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2145059	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2145060	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2145061	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2224316	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2424444	0.92[ASN][1000 genomes]
rs2424445	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2424447	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2424448	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2424450	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424451	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2424454	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2424456	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2424457	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2424458	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2424459	0.90[ASN][1000 genomes]
rs4815129	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4815130	0.98[ASN][1000 genomes]
rs4815131	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4815132	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4815133	0.81[EUR][1000 genomes]
rs4815134	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4815135	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55803110	0.90[ASN][1000 genomes]
rs6036168	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6036169	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6036173	0.81[ASN][1000 genomes]
rs6048245	0.90[ASN][1000 genomes]
rs6048249	0.93[CEU][hapmap]
rs6082765	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6082767	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6082774	0.90[ASN][1000 genomes]
rs6082778	0.90[ASN][1000 genomes]
rs6082779	0.90[ASN][1000 genomes]
rs6082784	0.93[CEU][hapmap]
rs6113758	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6132536	0.90[ASN][1000 genomes]
rs6132537	0.90[ASN][1000 genomes]
rs6137712	0.91[ASN][1000 genomes]
rs6137721	0.90[ASN][1000 genomes]
rs7273357	0.90[ASN][1000 genomes]
rs73304707	0.89[ASN][1000 genomes]
rs747911	0.92[ASN][1000 genomes]
rs754855	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs910956	0.92[ASN][1000 genomes]
rs910957	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs910960	0.87[ASN][1000 genomes]
rs975525	1.00[EUR][1000 genomes];0.96[ASN][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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