Variant report

Variant	rs220989
Chromosome Location	chr20:23009317-23009318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2092634	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092635	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092636	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103760	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs220987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs220988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235953	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2424502	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs2567607	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2746620	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2746621	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57804096	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23001000-23015800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:23005400-23010800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr20:23005800-23010200	Enhancers	Primary hematopoietic stem cells	blood
4	chr20:23005800-23010600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr20:23006000-23010600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr20:23006000-23010600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr20:23006200-23010200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr20:23008200-23010400	Enhancers	Dnd41	blood
9	chr20:23008600-23011800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr20:23008800-23009800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr20:23009000-23009400	Bivalent Enhancer	Fetal Heart	heart
12	chr20:23009000-23010800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr20:23009000-23011600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr20:23009200-23009600	Enhancers	Monocytes-CD14+_RO01746	blood

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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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