Variant report

Variant	rs62194206
Chromosome Location	chr20:15988610-15988611
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6074994	0.90[ASN][1000 genomes]
rs6080092	0.90[ASN][1000 genomes]
rs6080097	0.88[ASN][1000 genomes]
rs73111739	0.80[ASN][1000 genomes]
rs912187	1.00[AMR][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	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3447866	chr20:15799286-16115291	Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1065548	chr20:15971797-16023086	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15979000-16004200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr20:15984000-15989200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr20:15985600-15988800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr20:15986200-15990800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr20:15986600-15990600	Weak transcription	Fetal Heart	heart
6	chr20:15987000-15990800	Weak transcription	Brain Germinal Matrix	brain
7	chr20:15987000-15991400	Weak transcription	Fetal Brain Female	brain
8	chr20:15987400-15989000	Enhancers	GM12878-XiMat	blood
9	chr20:15987400-15991800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr20:15987400-15995200	Strong transcription	Primary B cells from cord blood	blood
11	chr20:15988200-15989400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr20:15988200-15990000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr20:15988600-15988800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr20:15988600-15988800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr20:15988600-15988800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr20:15988600-15988800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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

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