Variant report

Variant	rs66971060
Chromosome Location	chr20:53277666-53277667
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11698905	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11700074	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11700279	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12624566	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13038457	0.86[AMR][1000 genomes];0.84[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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53276000-53280600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr20:53276200-53278400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:53276400-53277800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr20:53277000-53280600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr20:53277200-53278600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr20:53277400-53277800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr20:53277400-53279400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:53277600-53278000	Enhancers	Fetal Brain Female	brain
9	chr20:53277600-53278400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
10	chr20:53277600-53279000	Enhancers	Fetal Brain Male	brain
11	chr20:53277600-53279200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr20:53277600-53279600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
13	chr20:53277600-53279600	Enhancers	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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