Variant report

Variant	rs12186530
Chromosome Location	chr5:167215627-167215628
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10036294	0.84[ASN][1000 genomes]
rs10462970	0.93[ASN][1000 genomes]
rs11134468	0.85[EUR][1000 genomes]
rs11134470	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11134471	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11949355	0.83[EUR][1000 genomes]
rs11956673	0.85[EUR][1000 genomes]
rs12516791	0.85[EUR][1000 genomes]
rs12520082	0.85[EUR][1000 genomes]
rs1364370	0.85[ASN][1000 genomes]
rs17069129	0.85[EUR][1000 genomes]
rs4868807	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4869068	0.85[EUR][1000 genomes]
rs4869072	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57533222	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57674698	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58347375	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58922769	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6555769	0.88[ASN][1000 genomes]
rs6861976	0.92[ASN][1000 genomes]
rs72832005	0.83[EUR][1000 genomes]
rs72832012	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72832022	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7703715	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7708656	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7730435	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7737681	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167203600-167218800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:167210800-167217200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:167210800-167225000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:167211200-167219200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:167212600-167217600	Weak transcription	HSMM	muscle
6	chr5:167212600-167219000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:167212800-167218800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:167214600-167219800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr5:167214800-167216800	Weak transcription	Osteobl	bone
10	chr5:167214800-167217000	Weak transcription	Aorta	Aorta
11	chr5:167215200-167217000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:167215200-167219000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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