Variant report

Variant	rs3112933
Chromosome Location	chr2:180424382-180424383
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10169569	0.82[ASN][1000 genomes]
rs11894850	1.00[ASN][1000 genomes]
rs12693194	1.00[ASN][1000 genomes]
rs12997546	1.00[ASN][1000 genomes]
rs1399692	0.82[ASN][1000 genomes]
rs1515297	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1515298	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2203459	0.82[ASN][1000 genomes]
rs3112926	0.82[ASN][1000 genomes]
rs3112931	0.82[ASN][1000 genomes]
rs4267476	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56201866	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62179171	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433796	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7579911	0.82[ASN][1000 genomes]
rs868271	0.82[ASN][1000 genomes]
rs868272	0.82[ASN][1000 genomes]
rs868273	0.82[ASN][1000 genomes]
rs868274	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv523865	chr2:180403128-180426764	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	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
4	esv2763635	chr2:180411003-180425692	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1002389	chr2:180413350-180425692	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
6	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
7	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
8	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180415600-180426600	Weak transcription	Fetal Brain Male	brain
2	chr2:180415800-180432400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:180417000-180426800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:180420800-180425800	Weak transcription	Right Atrium	heart
5	chr2:180421600-180426800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:180423000-180425000	Weak transcription	Fetal Lung	lung
7	chr2:180423000-180427000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:180423200-180426800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:180423200-180426800	Weak transcription	Fetal Kidney	kidney
10	chr2:180423400-180426600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:180423400-180426600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:180423600-180426600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:180423600-180426800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:180423800-180424400	Enhancers	HepG2	liver
15	chr2:180423800-180425200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:180423800-180425400	Weak transcription	Psoas Muscle	Psoas
17	chr2:180423800-180427000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:180424200-180424800	Enhancers	Liver	Liver
19	chr2:180424200-180425600	Weak transcription	Gastric	stomach
20	chr2:180424200-180427200	Weak transcription	Pancreas	Pancrea

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