Variant report

Variant	rs2203459
Chromosome Location	chr2:180426827-180426828
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10169569	0.84[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674582	1.00[JPT][hapmap]
rs11683272	1.00[JPT][hapmap]
rs11688895	1.00[JPT][hapmap]
rs11894850	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12693194	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12991713	1.00[JPT][hapmap]
rs12997546	0.82[ASN][1000 genomes]
rs13030456	1.00[JPT][hapmap]
rs13035596	1.00[JPT][hapmap]
rs1399692	0.83[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1515297	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1515298	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs16866782	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17816271	1.00[JPT][hapmap]
rs2222032	0.85[JPT][hapmap]
rs3112926	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112931	0.83[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112933	0.82[ASN][1000 genomes]
rs4267476	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4530328	1.00[JPT][hapmap]
rs56201866	0.82[ASN][1000 genomes]
rs62179171	0.82[ASN][1000 genomes]
rs6433796	1.00[JPT][hapmap]
rs6722937	0.86[JPT][hapmap]
rs713463	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7579911	0.83[CEU][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868271	0.84[CEU][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868272	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868273	0.82[CEU][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868274	0.84[CEU][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs999000	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875470	chr2:180400021-180432529	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv2760587	chr2:180409470-180430552	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1009492	chr2:180418199-180429152	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
4	nsv1013108	chr2:180418199-180430057	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
5	nsv1008996	chr2:180418199-180430552	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180415800-180432400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:180423000-180427000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:180423800-180427000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:180424200-180427200	Weak transcription	Pancreas	Pancrea
5	chr2:180425000-180427400	Flanking Active TSS	HepG2	liver
6	chr2:180425400-180427200	Active TSS	Psoas Muscle	Psoas
7	chr2:180425800-180427200	Active TSS	Liver	Liver
8	chr2:180425800-180427400	Active TSS	Right Atrium	heart
9	chr2:180426400-180427000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:180426600-180427400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:180426600-180427400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:180426600-180427400	Enhancers	Fetal Brain Male	brain
13	chr2:180426600-180427600	Enhancers	Fetal Heart	heart
14	chr2:180426800-180427000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr2:180426800-180427000	Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr2:180426800-180427200	Active TSS	Fetal Kidney	kidney
17	chr2:180426800-180427200	Bivalent/Poised TSS	Fetal Lung	lung
18	chr2:180426800-180427200	Active TSS	Fetal Muscle Leg	muscle
19	chr2:180426800-180427200	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr2:180426800-180427400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:180426800-180427600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:180426800-180428000	Enhancers	HUES48 Cell Line	embryonic stem cell

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