Variant report

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52765702..52767695-chr20:52867432..52869251,2	MCF-7	breast:
2	chr20:52541071..52543392-chr20:52866334..52868827,2	MCF-7	breast:
3	chr20:52867976..52870425-chr3:64028601..64031231,2	MCF-7	breast:
4	chr20:46414313..46416675-chr20:52867121..52869732,2	MCF-7	breast:
5	chr20:52828139..52830421-chr20:52867802..52870062,3	MCF-7	breast:
6	chr20:52824081..52826054-chr20:52865932..52869454,4	MCF-7	breast:
7	chr20:52867514..52871887-chr3:64023901..64028023,6	MCF-7	breast:
8	chr17:58755203..58757844-chr20:52867500..52869409,2	MCF-7	breast:
9	chr20:52738817..52742064-chr20:52868382..52870763,3	MCF-7	breast:
10	chr20:52853983..52856679-chr20:52866149..52869118,2	MCF-7	breast:
11	chr20:52840265..52842144-chr20:52866787..52869345,2	MCF-7	breast:

No data

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10485793	0.93[CEU][hapmap];0.83[TSI][hapmap]
rs12624322	0.82[ASN][1000 genomes]
rs12624646	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12625916	0.81[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1418926	0.91[CHB][hapmap]
rs1418927	0.80[ASW][hapmap];0.81[CEU][hapmap];0.91[CHB][hapmap];0.82[AMR][1000 genomes]
rs28717994	0.95[ASN][1000 genomes]
rs292118	0.82[GIH][hapmap]
rs4811499	0.93[CEU][hapmap]
rs4811500	0.93[CEU][hapmap]
rs6023044	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs6091836	0.90[CHB][hapmap];0.87[JPT][hapmap]
rs6097868	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62216577	0.85[EUR][1000 genomes]
rs62216585	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62216586	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62216587	0.80[EUR][1000 genomes]
rs7267971	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7270114	0.89[CHB][hapmap]
rs8118242	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	nsv834010	chr20:52759824-52932939	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6097867	KCNG1	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52865400-52871000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr20:52867800-52870800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr20:52868200-52871400	Weak transcription	Hela-S3	cervix
4	chr20:52868200-52871800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr20:52868400-52868800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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