Variant report

Variant	rs996385
Chromosome Location	chr20:11367762-11367763
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs4610128	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6040600	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6040603	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040608	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6040611	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6040615	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6078159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73245616	0.81[AFR][1000 genomes]
rs73245627	0.82[AFR][1000 genomes]
rs910259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs996383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs996384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv585415	chr20:11134907-11383327	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs996385	FUZ	trans	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11367200-11369200	Enhancers	A549	lung
2	chr20:11367400-11368400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr20:11367400-11368800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr20:11367400-11369000	Enhancers	Hela-S3	cervix
5	chr20:11367600-11368000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr20:11367600-11368000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr20:11367600-11368000	Enhancers	Osteobl	bone
8	chr20:11367600-11368200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr20:11367600-11368400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr20:11367600-11368400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:11367600-11368400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr20:11367600-11368600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr20:11367600-11368600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr20:11367600-11368600	Enhancers	NH-A	brain
15	chr20:11367600-11368800	Enhancers	NHEK	skin
16	chr20:11367600-11369000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr20:11367600-11370600	Enhancers	HMEC	breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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