Variant report

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:53180784..53181784-chr6:43737896..43738804,2	Hela-S3	cervix:
2	chr17:57920574..57921080-chr20:53180784..53181764,2	Hela-S3	cervix:
3	chr16:31470688..31471246-chr20:53180784..53181784,2	Hela-S3	cervix:
4	chr1:45267184..45268181-chr20:53181264..53181764,2	Hela-S3	cervix:
5	chr20:52209466..52212031-chr20:53179760..53182480,2	MCF-7	breast:
6	chr1:207495315..207495866-chr20:53180784..53181784,2	Hela-S3	cervix:
7	chr17:41393227..41393740-chr20:53181264..53181764,2	Hela-S3	cervix:
8	chr15:75939314..75940130-chr20:53180764..53181764,2	Hela-S3	cervix:
9	chr1:182808885..182809766-chr20:53180764..53181764,2	Hela-S3	cervix:
10	chr20:53175467..53178399-chr20:53179059..53181849,2	MCF-7	breast:

No data

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

rs_ID	r²[population]
rs10485784	1.00[GIH][hapmap]
rs16999764	0.83[TSI][hapmap]
rs55638072	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59634021	0.83[EUR][1000 genomes]
rs6014054	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6023244	1.00[GIH][hapmap]
rs6023245	1.00[GIH][hapmap]
rs6023251	1.00[GIH][hapmap]
rs6023346	1.00[CEU][hapmap]
rs6023364	0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6023383	1.00[GIH][hapmap]
rs6068904	0.90[EUR][1000 genomes]
rs6068930	1.00[GIH][hapmap]
rs6091886	1.00[GIH][hapmap]
rs6098099	1.00[GIH][hapmap]
rs6098118	1.00[GIH][hapmap]
rs62214422	0.86[EUR][1000 genomes]
rs62214423	0.90[EUR][1000 genomes]
rs62214426	0.90[EUR][1000 genomes]
rs873078	1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53167800-53189200	Weak transcription	Aorta	Aorta
2	chr20:53171200-53187800	Weak transcription	Fetal Muscle Leg	muscle
3	chr20:53171400-53185800	Weak transcription	Fetal Brain Female	brain
4	chr20:53171600-53186800	Weak transcription	Brain Anterior Caudate	brain
5	chr20:53174200-53181400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr20:53175800-53182800	Weak transcription	Osteobl	bone
7	chr20:53177600-53182600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr20:53179800-53190200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr20:53181000-53182800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr20:53181200-53181600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr20:53181200-53181600	Weak transcription	Brain Germinal Matrix	brain
12	chr20:53181200-53181800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr20:53181200-53182200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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