Variant report

Variant	rs17000018
Chromosome Location	chr20:53295347-53295348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:53295264..53295940-chr20:55798792..55799578,2	MCF-7	breast:
2	chr20:53286235..53288199-chr20:53294534..53296674,2	MCF-7	breast:
3	chr17:56735402..56737734-chr20:53294537..53297494,2	MCF-7	breast:
4	chr20:46281083..46282592-chr20:53294838..53296612,2	MCF-7	breast:
5	chr20:53294274..53296254-chr20:53296968..53298496,2	MCF-7	breast:
6	chr17:62391951..62394828-chr20:53295220..53297962,2	MCF-7	breast:
7	chr20:53293305..53299094-chr20:53306694..53312269,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000202077	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs17000020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2206906	1.00[ASN][1000 genomes]
rs2206907	1.00[ASN][1000 genomes]
rs2206908	1.00[ASN][1000 genomes]
rs2223748	1.00[ASN][1000 genomes]
rs2223749	1.00[ASN][1000 genomes]
rs56105195	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6014118	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6014119	1.00[ASN][1000 genomes]
rs6014120	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6014123	1.00[ASN][1000 genomes]
rs6014124	1.00[ASN][1000 genomes]
rs6014125	1.00[ASN][1000 genomes]
rs6023468	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs6023469	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs6023482	1.00[ASN][1000 genomes]
rs6023483	1.00[ASN][1000 genomes]
rs6023485	1.00[ASN][1000 genomes]
rs6023486	1.00[ASN][1000 genomes]
rs6023494	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6023498	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6098151	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62216271	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62216272	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62216285	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62216286	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62216287	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs966547	0.90[ASN][1000 genomes]
rs993808	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[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	nsv1067497	chr20:53146241-53751820	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
2	nsv1064144	chr20:53175264-53750137	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
3	nsv544302	chr20:53175264-53750137	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	nsv1060552	chr20:53234716-53655115	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv586283	chr20:53288595-53311415	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53290600-53296800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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