Variant report

Variant	rs8121869
Chromosome Location	chr20:52337166-52337167
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11086437	0.84[ASN][1000 genomes]
rs11906408	0.93[ASN][1000 genomes]
rs4811452	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4811453	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4811454	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4811455	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4811456	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56055743	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57351418	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6068638	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60762133	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8125426	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055342	chr20:52126973-52352323	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	214 gene(s)	inside rSNPs	diseases
2	esv3412883	chr20:52176349-52393416	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
3	nsv834007	chr20:52213864-52404557	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	174 gene(s)	inside rSNPs	diseases
4	nsv912936	chr20:52250876-52344962	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
5	nsv912937	chr20:52251863-52344962	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
6	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
7	esv3369417	chr20:52332945-52337843	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3359850	chr20:52333245-52337443	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52330400-52341600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:52330800-52337400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr20:52331200-52340600	Weak transcription	Placenta	Placenta
4	chr20:52331200-52352600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr20:52332200-52340400	Weak transcription	HepG2	liver
6	chr20:52333600-52337400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr20:52334800-52337400	Weak transcription	Osteobl	bone
8	chr20:52335600-52337400	Enhancers	GM12878-XiMat	blood
9	chr20:52336000-52337400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr20:52336200-52337400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr20:52336400-52337400	Weak transcription	Primary B cells from cord blood	blood
12	chr20:52336400-52337400	Weak transcription	Primary B cells from peripheral blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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