Variant report

Variant	rs11696904
Chromosome Location	chr20:53236036-53236037
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:53227273..53231686-chr20:53235441..53239585,4	MCF-7	breast:
2	chr20:53231002..53233053-chr20:53235777..53237656,2	MCF-7	breast:
3	chr20:53235605..53237909-chr20:53254058..53257053,2	MCF-7	breast:
4	chr11:13722742..13723701-chr20:53235858..53236523,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2224269	0.82[AMR][1000 genomes]
rs35338030	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4809969	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4811509	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4811510	0.89[EUR][1000 genomes]
rs4811511	0.89[EUR][1000 genomes]
rs4811512	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6023409	0.89[EUR][1000 genomes]
rs6064091	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6064092	0.82[AMR][1000 genomes]
rs6068912	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6417302	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv586282	chr20:53218978-53254815	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53204600-53240600	Weak transcription	Left Ventricle	heart
2	chr20:53215200-53236400	Weak transcription	Aorta	Aorta
3	chr20:53217400-53240600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr20:53221600-53239000	Weak transcription	Osteobl	bone
5	chr20:53227800-53239000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr20:53229200-53240600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr20:53233200-53237800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr20:53234600-53236200	Enhancers	Fetal Muscle Leg	muscle
9	chr20:53234800-53238200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr20:53235000-53236200	Enhancers	Fetal Muscle Trunk	muscle
11	chr20:53235000-53241600	Enhancers	Fetal Brain Male	brain
12	chr20:53235200-53250400	Weak transcription	Psoas Muscle	Psoas
13	chr20:53235600-53236400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr20:53235800-53236200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr20:53235800-53236200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr20:53235800-53236200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr20:53235800-53236200	Enhancers	Brain Cingulate Gyrus	brain
18	chr20:53235800-53236200	Enhancers	Brain Germinal Matrix	brain
19	chr20:53235800-53236200	Enhancers	Fetal Lung	lung
20	chr20:53235800-53236200	Enhancers	Right Atrium	heart
21	chr20:53235800-53236200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr20:53235800-53236600	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr20:53235800-53236600	Enhancers	HSMMtube	muscle
24	chr20:53236000-53236200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr20:53236000-53236200	Bivalent Enhancer	Hela-S3	cervix
26	chr20:53236000-53236600	Enhancers	Brain Anterior Caudate	brain
27	chr20:53236000-53236600	Enhancers	Fetal Heart	heart
28	chr20:53236000-53238000	Enhancers	Fetal Brain Female	brain
29	chr20:53236000-53238800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr20:53236000-53241800	Weak transcription	Pancreas	Pancrea

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