Variant report

Variant	rs56175051
Chromosome Location	chr8:20043759-20043760
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:15)

rs_ID	r²[population]
rs10102445	1.00[EUR][1000 genomes]
rs10108611	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10283363	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28393220	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28520251	0.81[ASN][1000 genomes]
rs28577098	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28609982	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3757961	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59372740	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73669732	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73669733	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73669734	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73669735	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73669739	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs952860	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1015598	chr8:19963102-20088510	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539523	chr8:19963102-20088510	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20036000-20044200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:20040800-20048400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:20041000-20044600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:20041200-20044400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:20041200-20044400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:20041200-20044400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:20041400-20044000	Weak transcription	Fetal Intestine Large	intestine
8	chr8:20041400-20044400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:20042200-20051800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:20042400-20044400	Weak transcription	Fetal Intestine Small	intestine
11	chr8:20042600-20044400	Weak transcription	NH-A	brain
12	chr8:20043400-20044200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr8:20043600-20043800	Enhancers	Lung	lung
14	chr8:20043600-20047600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr8:20043600-20047800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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