Variant report

Variant	rs2866990
Chromosome Location	chr20:40635149-40635150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1884032	0.81[EUR][1000 genomes]
rs2207219	0.82[EUR][1000 genomes]
rs2866940	0.82[EUR][1000 genomes]
rs2866987	0.89[EUR][1000 genomes]
rs2903437	0.89[EUR][1000 genomes]
rs6016669	0.84[EUR][1000 genomes]
rs6029899	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6065420	0.84[AFR][1000 genomes]
rs6065426	0.84[EUR][1000 genomes]
rs6072590	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6072607	0.82[EUR][1000 genomes]
rs6093553	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3381	chr20:39925326-40765696	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv532516	chr20:40451059-41097155	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv912873	chr20:40601021-40675704	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40633600-40635200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr20:40633600-40635200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr20:40633600-40635200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr20:40633600-40635400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr20:40633800-40635200	Enhancers	H9 Cell Line	embryonic stem cell
6	chr20:40633800-40635200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr20:40633800-40635400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr20:40634600-40635400	Enhancers	HUES64 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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