Variant report

Variant	rs12623018
Chromosome Location	chr2:183367751-183367752
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11678804	0.84[AFR][1000 genomes]
rs11883669	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11884886	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11892848	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12616179	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12616229	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12622605	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12996626	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13008937	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13036034	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13400207	0.92[ASN][1000 genomes]
rs1430142	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1430143	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1430144	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1430145	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1430150	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17265350	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1835339	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2082134	0.84[AFR][1000 genomes]
rs2099185	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2303890	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2368297	0.92[ASN][1000 genomes]
rs2368298	0.92[ASN][1000 genomes]
rs2368299	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2887208	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2887217	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2887218	0.84[AFR][1000 genomes]
rs34245807	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35182213	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35361731	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35828806	0.82[AMR][1000 genomes]
rs4480955	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4629124	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4666587	0.92[ASN][1000 genomes]
rs4666846	0.92[ASN][1000 genomes]
rs4666851	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55893866	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55986741	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67259847	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6740244	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6747821	0.92[ASN][1000 genomes]
rs6758298	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6760589	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7563753	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7578481	0.91[ASN][1000 genomes]
rs7578703	0.91[ASN][1000 genomes]
rs7589555	0.83[EUR][1000 genomes]
rs7592388	0.91[ASN][1000 genomes]
rs7606875	0.80[ASN][1000 genomes]
rs9789764	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2830429	chr2:183300759-183545378	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	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	chr2:183361600-183392000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:183364800-183368000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:183365000-183368200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:183365000-183369000	Weak transcription	NHLF	lung
5	chr2:183365600-183368600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:183365600-183368600	Weak transcription	Osteobl	bone
7	chr2:183365600-183369400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:183365600-183371400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:183365800-183368600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:183366000-183368400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:183366200-183370600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:183366600-183368200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:183366800-183367800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:183366800-183369800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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