Variant report

Variant	rs6014103
Chromosome Location	chr20:53259013-53259014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:52567585..52570584-chr20:53257442..53259589,2	MCF-7	breast:
2	chr20:53258691..53260820-chr9:131702974..131705008,2	MCF-7	breast:
3	chr20:52828484..52831643-chr20:53256880..53260279,4	MCF-7	breast:
4	chr20:52842269..52844350-chr20:53256465..53259306,2	MCF-7	breast:
5	chr17:56708372..56710185-chr20:53258273..53260843,2	MCF-7	breast:
6	chr20:53255269..53257076-chr20:53258321..53260016,2	K562	blood:
7	chr20:52813822..52828208-chr20:53257867..53268573,36	MCF-7	breast:
8	chr20:53184299..53185930-chr20:53258738..53260954,2	K562	blood:
9	chr20:52821463..52842130-chr20:53255769..53272087,93	MCF-7	breast:
10	chr20:52746822..52749791-chr20:53258985..53261806,2	MCF-7	breast:
11	chr20:53257490..53260450-chr3:64522164..64524068,2	MCF-7	breast:
12	chr20:53071107..53073077-chr20:53258088..53260075,2	MCF-7	breast:
13	chr20:52834872..52837483-chr20:53257403..53260162,2	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1569982	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1569983	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1569984	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1983702	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2180462	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4302265	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4334548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4811514	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6014105	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6023441	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6023451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6064100	0.93[AMR][1000 genomes]
rs6068929	0.97[AMR][1000 genomes];0.94[EUR][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	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	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
3	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
4	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
5	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

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53242400-53270200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:53249600-53259800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:53250600-53259800	Weak transcription	Fetal Brain Female	brain
4	chr20:53250800-53260000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr20:53254000-53259800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr20:53256800-53259600	Weak transcription	Fetal Brain Male	brain
7	chr20:53257600-53266000	Weak transcription	Brain Germinal Matrix	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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