Variant report

Variant	rs7713448
Chromosome Location	chr5:167146649-167146650
allele	G/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[CEU][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10045595	0.87[JPT][hapmap]
rs12520148	0.81[GIH][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs2337017	0.81[CEU][hapmap];0.83[GIH][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs2337018	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs2337021	0.88[CEU][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs279400	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]
rs279402	0.81[CEU][hapmap];0.86[GIH][hapmap];0.85[LWK][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4285252	0.88[EUR][1000 genomes]
rs4302613	0.87[EUR][1000 genomes]
rs4628015	0.81[CEU][hapmap];0.86[GIH][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs4869066	0.94[CEU][hapmap];0.82[CHB][hapmap];0.94[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4869067	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs60495422	0.92[EUR][1000 genomes]
rs7707689	0.87[JPT][hapmap]
rs7714651	0.87[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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167137800-167146800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:167140800-167150200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:167143200-167148400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:167143400-167152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:167143400-167156000	Weak transcription	NH-A	brain
6	chr5:167143600-167147200	Weak transcription	Osteobl	bone
7	chr5:167143800-167146800	Weak transcription	HSMMtube	muscle
8	chr5:167143800-167147200	Weak transcription	HSMM	muscle
9	chr5:167143800-167147400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:167144200-167147400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:167144200-167148400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:167145200-167149000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:167145200-167149000	Weak transcription	NHEK	skin
14	chr5:167145200-167149200	Weak transcription	HMEC	breast
15	chr5:167145400-167148400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:167145400-167152400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:167145600-167149000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:167146600-167147000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:167146600-167147000	Weak transcription	Fetal Lung	lung

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

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