Variant report

Variant	rs11894850
Chromosome Location	chr2:180410371-180410372
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10169569	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11674582	1.00[JPT][hapmap]
rs11683272	1.00[JPT][hapmap]
rs11688895	1.00[JPT][hapmap]
rs11888508	0.89[CEU][hapmap];0.80[AMR][1000 genomes]
rs12693194	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12991713	1.00[JPT][hapmap]
rs12997546	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13030456	1.00[JPT][hapmap]
rs13035596	1.00[JPT][hapmap]
rs1399692	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1515297	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1515298	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16866782	1.00[JPT][hapmap]
rs17816271	1.00[JPT][hapmap]
rs2203459	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2222032	0.85[JPT][hapmap]
rs3112926	0.82[ASN][1000 genomes]
rs3112931	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3112933	1.00[ASN][1000 genomes]
rs4267476	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4530328	1.00[JPT][hapmap]
rs56201866	1.00[ASN][1000 genomes]
rs62179171	1.00[ASN][1000 genomes]
rs6433796	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6722937	0.86[JPT][hapmap]
rs7579911	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs868271	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs868272	0.82[ASN][1000 genomes]
rs868273	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs868274	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs999000	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv437591	chr2:180409011-180423183	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1006031	chr2:180409264-180422125	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1004911	chr2:180409458-180421894	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1011786	chr2:180409458-180422125	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
7	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
8	nsv1005119	chr2:180409582-180422125	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1011707	chr2:180409617-180422125	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv10203	chr2:180410181-180423829	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3525539	chr2:180410257-180416805	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3525540	chr2:180410257-180416805	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv961759	chr2:180410275-180422807	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180405400-180410600	Enhancers	HepG2	liver
2	chr2:180407000-180411400	Weak transcription	Right Atrium	heart
3	chr2:180408400-180410600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:180408400-180423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:180408800-180414200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:180408800-180415600	Weak transcription	Fetal Brain Female	brain
7	chr2:180409800-180411400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:180410000-180415400	Weak transcription	Liver	Liver
9	chr2:180410200-180415400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links