Variant report

Variant	rs2424456
Chromosome Location	chr20:22643662-22643663
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22639586..22642017-chr20:22643228..22644849,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1543443	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1571249	0.89[EUR][1000 genomes]
rs1571251	0.81[EUR][1000 genomes]
rs1571252	0.82[EUR][1000 genomes]
rs2145058	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2145059	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2145060	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2145061	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2209796	0.90[EUR][1000 genomes]
rs2224316	0.86[ASN][1000 genomes]
rs2424444	0.86[ASN][1000 genomes]
rs2424445	0.84[EUR][1000 genomes]
rs2424446	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2424447	0.84[EUR][1000 genomes]
rs2424448	0.83[EUR][1000 genomes]
rs2424450	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2424451	0.83[EUR][1000 genomes]
rs2424454	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424457	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424458	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2424459	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4499503	0.90[EUR][1000 genomes]
rs4815129	0.91[ASN][1000 genomes]
rs4815130	0.91[ASN][1000 genomes]
rs4815131	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4815132	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4815134	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815135	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55803110	0.97[ASN][1000 genomes]
rs6036168	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036169	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6036170	0.83[EUR][1000 genomes]
rs6036172	0.92[EUR][1000 genomes]
rs6036173	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6036175	0.90[EUR][1000 genomes]
rs6036176	0.81[EUR][1000 genomes]
rs6048241	0.92[EUR][1000 genomes]
rs6048245	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6048247	0.89[EUR][1000 genomes]
rs6048249	0.88[EUR][1000 genomes]
rs6048254	0.80[EUR][1000 genomes]
rs6075933	0.92[EUR][1000 genomes]
rs6075934	0.92[EUR][1000 genomes]
rs6082765	0.86[ASN][1000 genomes]
rs6082767	0.83[EUR][1000 genomes]
rs6082774	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6082777	0.92[EUR][1000 genomes]
rs6082778	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6082779	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6082784	0.90[EUR][1000 genomes]
rs6082789	0.81[EUR][1000 genomes]
rs6113758	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6113762	0.92[EUR][1000 genomes]
rs6132536	0.97[ASN][1000 genomes]
rs6132537	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6137712	0.84[ASN][1000 genomes]
rs6137721	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7273357	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73304706	0.92[EUR][1000 genomes]
rs73304707	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs747911	0.86[ASN][1000 genomes]
rs754855	0.86[ASN][1000 genomes]
rs910956	0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs910957	0.87[ASN][1000 genomes]
rs910960	0.80[ASN][1000 genomes]
rs975525	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22634400-22643800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:22643000-22644000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr20:22643200-22645000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr20:22643200-22645400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr20:22643200-22645600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr20:22643200-22646200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr20:22643400-22644200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr20:22643400-22644600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr20:22643400-22644600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr20:22643400-22645000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr20:22643400-22645000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr20:22643400-22645200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr20:22643400-22645200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr20:22643400-22645200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr20:22643400-22645400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr20:22643400-22645800	Enhancers	H9 Cell Line	embryonic stem cell
17	chr20:22643600-22644400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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