Variant report

Variant	rs12073184
Chromosome Location	chr1:180995441-180995442
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10797664	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10910848	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10910849	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10910850	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11589765	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12411105	0.83[AMR][1000 genomes]
rs12565758	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12727543	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2331992	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35672928	0.86[AMR][1000 genomes]
rs3930261	0.85[AMR][1000 genomes]
rs4545301	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4652549	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61809217	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6425661	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6678384	0.90[ASN][1000 genomes]
rs6692913	0.83[EUR][1000 genomes];0.90[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	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	esv3342865	chr1:180933678-181018012	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv3383831	chr1:180937224-181029755	Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1011081	chr1:180973159-181135953	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180992200-181003600	Weak transcription	Gastric	stomach
2	chr1:180992600-180997000	Weak transcription	Osteobl	bone
3	chr1:180992800-180995800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr1:180992800-180996400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr1:180992800-180997000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:180992800-180997200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:180992800-180997400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:180992800-181002200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:180993000-180995800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:180993200-180996600	Weak transcription	GM12878-XiMat	blood
11	chr1:180993200-181001800	Weak transcription	HepG2	liver
12	chr1:180994000-181002000	Weak transcription	NHLF	lung
13	chr1:180994600-180997200	Weak transcription	NHDF-Ad	bronchial

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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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