Variant report

Variant	rs16984838
Chromosome Location	chr20:23005819-23005820
allele	A/G
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:14)

rs_ID	r²[population]
rs10485638	0.94[ASN][1000 genomes]
rs11905306	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11905464	0.89[AFR][1000 genomes]
rs13045080	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs13306849	1.00[AMR][1000 genomes]
rs16984836	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2021409	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs28532517	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34307615	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35888045	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35902492	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35948817	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs36204270	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41310177	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv3390601	chr20:23003076-23007103	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22996000-23006200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr20:23001000-23008800	Weak transcription	Lung	lung
3	chr20:23001000-23015800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:23002800-23006200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr20:23003400-23006000	Enhancers	Fetal Heart	heart
6	chr20:23004600-23007600	Weak transcription	Spleen	Spleen
7	chr20:23005400-23010800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr20:23005600-23006200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr20:23005600-23006200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr20:23005800-23006600	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr20:23005800-23007800	Enhancers	Dnd41	blood
12	chr20:23005800-23010200	Enhancers	Primary hematopoietic stem cells	blood
13	chr20:23005800-23010600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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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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