Variant report

Variant	rs40078
Chromosome Location	chr5:92334103-92334104
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs163952	0.84[LWK][hapmap];0.84[TSI][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs2438469	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs250271	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs34512	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs345909	0.81[EUR][1000 genomes]
rs345910	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs345911	0.88[EUR][1000 genomes]
rs345919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs345924	0.81[AFR][1000 genomes]
rs43195	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv1015770	chr5:91911877-92498264	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1022712	chr5:92191693-92415111	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1028930	chr5:92194772-92415111	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv830399	chr5:92290915-92462490	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr5:92333600-92335600	Enhancers	HepG2	liver
2	chr5:92333800-92334200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:92333800-92334400	Active TSS	Fetal Lung	lung
4	chr5:92333800-92334400	Active TSS	Osteobl	bone
5	chr5:92333800-92334600	Active TSS	NHLF	lung
6	chr5:92334000-92334200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:92334000-92334200	Active TSS	Brain Substantia Nigra	brain
8	chr5:92334000-92334400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:92334000-92334400	Flanking Active TSS	Fetal Kidney	kidney
10	chr5:92334000-92334400	Active TSS	Ovary	ovary
11	chr5:92334000-92334400	Active TSS	Stomach Smooth Muscle	stomach
12	chr5:92334000-92334600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:92334000-92334600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:92334000-92334600	Active TSS	NHDF-Ad	bronchial
15	chr5:92334000-92334800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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

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