Variant report

Variant	rs58363161
Chromosome Location	chr3:158258312-158258313
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10936142	0.81[EUR][1000 genomes]
rs12631628	0.81[EUR][1000 genomes]
rs12631675	0.81[EUR][1000 genomes]
rs1630524	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1656363	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1656364	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1656370	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1714509	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1714511	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1714525	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4324501	0.81[EUR][1000 genomes]
rs55705928	0.81[EUR][1000 genomes]
rs6441207	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67286798	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6799272	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6805739	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7617165	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7627374	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1014381	chr3:158070451-158350118	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1004124	chr3:158146715-158808638	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv877690	chr3:158184263-158296916	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2763312	chr3:158193512-158420588	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv916167	chr3:158240540-158320581	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv877691	chr3:158245883-158359667	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs58363161	RP11-538P18.2	cis	Artery Tibial	GTEx
rs58363161	RP11-538P18.2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158246600-158261000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr3:158249400-158264400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:158252600-158267400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr3:158253800-158261000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr3:158255200-158263800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr3:158255600-158260600	Weak transcription	Dnd41	blood
7	chr3:158256200-158264600	Weak transcription	Primary T cells from cord blood	blood
8	chr3:158256600-158280000	Weak transcription	K562	blood
9	chr3:158257000-158262400	Weak transcription	Primary B cells from cord blood	blood
10	chr3:158257200-158261200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr3:158257400-158261200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:158257400-158262200	Weak transcription	Liver	Liver
13	chr3:158257800-158268000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:158258000-158261200	Weak transcription	Fetal Heart	heart
15	chr3:158258000-158265000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:158258000-158265000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:158258000-158268600	Weak transcription	Pancreas	Pancrea
18	chr3:158258200-158268200	Weak transcription	Adipose Nuclei	Adipose

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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