Variant report

Variant	rs10490521
Chromosome Location	chr2:152248325-152248326
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152245246..152248837-chr2:152249533..152253937,5	K562	blood:
2	chr2:152245246..152248837-chr2:152249533..152253831,3	K562	blood:
3	chr2:152242491..152244992-chr2:152247349..152248997,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10167358	0.81[CEU][hapmap]
rs10173597	0.88[CEU][hapmap];0.88[JPT][hapmap]
rs10173699	0.91[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10183099	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10206635	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1047957	0.87[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap]
rs10497082	0.83[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap]
rs1061305	0.82[JPT][hapmap]
rs11675385	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12616688	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12616740	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12618981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12994320	0.85[EUR][1000 genomes]
rs13393021	0.83[CEU][hapmap]
rs13425170	0.84[CHB][hapmap]
rs17193268	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17806204	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17806222	0.88[CEU][hapmap];0.89[JPT][hapmap]
rs2288193	0.91[CEU][hapmap];0.84[CHB][hapmap]
rs2342911	0.84[EUR][1000 genomes]
rs2432943	0.81[EUR][1000 genomes]
rs2432945	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2432946	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs2432956	0.85[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs2432957	0.85[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2444256	0.87[CEU][hapmap]
rs2444264	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs4335940	0.84[EUR][1000 genomes]
rs4461258	0.82[CEU][hapmap]
rs4467261	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4592848	0.91[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap]
rs5024580	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6718372	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs6724796	0.82[CEU][hapmap]
rs6731486	0.82[CEU][hapmap]
rs6735771	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72860233	0.82[EUR][1000 genomes];0.81[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	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv834418	chr2:152205803-152385516	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152239200-152264800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:152245600-152248600	Weak transcription	K562	blood
3	chr2:152248000-152249200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:152248200-152248800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:152248200-152249400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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