Variant report

Variant	rs279400
Chromosome Location	chr5:167143602-167143603
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:16)

rs_ID	r²[population]
rs10045430	0.81[JPT][hapmap];0.87[EUR][1000 genomes]
rs10045595	0.85[JPT][hapmap]
rs12520148	0.84[EUR][1000 genomes]
rs2337017	0.84[EUR][1000 genomes]
rs2337018	0.83[EUR][1000 genomes]
rs2337021	0.93[CEU][hapmap]
rs279402	0.87[EUR][1000 genomes]
rs4285252	0.84[EUR][1000 genomes]
rs4302613	0.82[EUR][1000 genomes]
rs4628015	0.87[EUR][1000 genomes]
rs4869066	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4869067	0.84[EUR][1000 genomes]
rs60495422	0.87[EUR][1000 genomes]
rs7707689	0.85[JPT][hapmap]
rs7713448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7714651	0.85[JPT][hapmap]

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	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv5115	chr5:167101911-167147020	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 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	chr5:167137800-167146800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:167138600-167144600	Weak transcription	HMEC	breast
3	chr5:167138600-167144800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:167140800-167150200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:167141600-167144200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:167143200-167143800	Enhancers	HSMMtube	muscle
7	chr5:167143200-167148400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:167143400-167143800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:167143400-167143800	Enhancers	HSMM	muscle
10	chr5:167143400-167152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:167143400-167156000	Weak transcription	NH-A	brain
12	chr5:167143600-167144000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:167143600-167146400	Weak transcription	Fetal Lung	lung
14	chr5:167143600-167147200	Weak transcription	Osteobl	bone

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

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