Variant report

Variant	rs1923118
Chromosome Location	chr20:53013999-53014000
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:53004912..53006586-chr20:53012402..53015101,2	K562	blood:
2	chr20:53012918..53016705-chr20:53024723..53027233,3	MCF-7	breast:
3	chr20:53006460..53007979-chr20:53012099..53014054,2	MCF-7	breast:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1007393	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1014808	0.84[ASN][1000 genomes]
rs1358806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1358807	0.92[ASN][1000 genomes]
rs1407043	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1539515	0.80[EUR][1000 genomes]
rs1590206	0.91[ASN][1000 genomes]
rs16999560	0.81[EUR][1000 genomes]
rs16999597	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2126677	0.81[EUR][1000 genomes]
rs28406117	0.85[ASN][1000 genomes]
rs28429972	0.86[ASN][1000 genomes]
rs2870329	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55865213	0.81[EUR][1000 genomes]
rs56339826	0.81[EUR][1000 genomes]
rs56881371	0.88[ASN][1000 genomes]
rs59924072	0.86[ASN][1000 genomes]
rs6013987	0.85[ASN][1000 genomes]
rs6013989	0.85[ASN][1000 genomes]
rs6013997	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6013999	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6014003	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6014004	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6014005	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6023153	0.88[ASN][1000 genomes]
rs6023154	0.88[ASN][1000 genomes]
rs6023155	0.90[ASN][1000 genomes]
rs6023156	0.90[ASN][1000 genomes]
rs6023158	0.90[ASN][1000 genomes]
rs6023163	0.86[ASN][1000 genomes]
rs6023164	0.86[ASN][1000 genomes]
rs6023178	0.86[ASN][1000 genomes]
rs6023179	0.86[ASN][1000 genomes]
rs6023180	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6023181	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6023183	0.90[ASN][1000 genomes]
rs6023185	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6023189	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6023192	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6023193	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6023197	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6023203	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6091858	0.80[EUR][1000 genomes]
rs6091860	0.81[EUR][1000 genomes]
rs6097934	0.88[ASN][1000 genomes]
rs6097938	0.85[ASN][1000 genomes]
rs6097939	0.89[ASN][1000 genomes]
rs6097940	0.88[ASN][1000 genomes]
rs6097941	0.88[ASN][1000 genomes]
rs6097942	0.80[EUR][1000 genomes]
rs6097943	0.80[EUR][1000 genomes]
rs6097945	0.84[ASN][1000 genomes]
rs6097946	0.84[ASN][1000 genomes]
rs6097950	0.81[EUR][1000 genomes]
rs6097955	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6097957	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6097963	0.99[ASN][1000 genomes]
rs6097964	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6097967	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73143321	0.81[EUR][1000 genomes]
rs73143323	0.81[EUR][1000 genomes]
rs73145242	0.81[EUR][1000 genomes]
rs73145250	0.81[EUR][1000 genomes]
rs73145257	0.81[EUR][1000 genomes]
rs73145263	0.81[EUR][1000 genomes]
rs73145273	0.81[EUR][1000 genomes]
rs73145277	0.81[EUR][1000 genomes]
rs73624107	0.85[ASN][1000 genomes]
rs73624108	0.86[ASN][1000 genomes]
rs73624110	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv834011	chr20:52858341-53086042	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv834012	chr20:52921007-53097177	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 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	chr20:53002600-53017600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:53013600-53014600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr20:53013600-53015000	Enhancers	HSMM	muscle

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