Variant report

Variant	rs35338030
Chromosome Location	chr20:53229113-53229114
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11696904	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4809969	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4811509	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4811510	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4811511	0.90[EUR][1000 genomes]
rs4811512	0.85[AMR][1000 genomes]
rs6023409	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6064091	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6068912	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6417302	0.90[AMR][1000 genomes];0.98[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	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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53202200-53230800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:53204600-53240600	Weak transcription	Left Ventricle	heart
3	chr20:53215200-53236400	Weak transcription	Aorta	Aorta
4	chr20:53217000-53235800	Weak transcription	Brain Germinal Matrix	brain
5	chr20:53217400-53240600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr20:53221600-53239000	Weak transcription	Osteobl	bone
7	chr20:53226800-53231000	Weak transcription	Fetal Brain Female	brain
8	chr20:53227400-53232800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr20:53227400-53235600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr20:53227600-53229200	Enhancers	Fetal Muscle Leg	muscle
11	chr20:53227600-53229400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr20:53227600-53235000	Weak transcription	Fetal Brain Male	brain
13	chr20:53227800-53233000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr20:53227800-53239000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr20:53228000-53229600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr20:53228000-53230400	Weak transcription	Ovary	ovary
17	chr20:53228800-53229200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr20:53228800-53229200	Enhancers	Fetal Stomach	stomach
19	chr20:53229000-53235800	Weak transcription	Fetal Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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