Variant report

Variant	rs372281
Chromosome Location	chr12:45324896-45324897
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:44351426..44352202-chr12:45324508..45325417,2	K562	blood:
2	chr12:45168329..45169564-chr12:45323968..45325348,4	K562	blood:
3	chr12:44393933..44394766-chr12:45324489..45325458,2	MCF-7	breast:
4	chr12:45206023..45206756-chr12:45324521..45325295,2	MCF-7	breast:
5	chr12:44409231..44409847-chr12:45324739..45325375,2	MCF-7	breast:
6	chr12:44396911..44397707-chr12:45324896..45325406,2	MCF-7	breast:
7	chr12:45168298..45169262-chr12:45324213..45325460,5	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11182702	1.00[CHB][hapmap]
rs11182799	1.00[CEU][hapmap]
rs11182800	1.00[CEU][hapmap]
rs1349354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1450557	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1450558	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2658976	0.83[MKK][hapmap];1.00[TSI][hapmap]
rs268026	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs268027	1.00[CHB][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap]
rs268028	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs268040	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2710424	1.00[TSI][hapmap]
rs374038	0.85[AFR][1000 genomes]
rs375660	0.94[AFR][1000 genomes]
rs376052	0.83[AFR][1000 genomes]
rs376283	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs377352	0.94[AFR][1000 genomes]
rs381841	0.83[AFR][1000 genomes]
rs389144	0.94[AFR][1000 genomes]
rs392849	0.83[AFR][1000 genomes]
rs399567	0.83[AFR][1000 genomes]
rs402960	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs411486	0.94[AFR][1000 genomes]
rs415380	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs421642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs436453	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs444468	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs445380	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs447309	0.83[AFR][1000 genomes]
rs447351	0.94[AFR][1000 genomes]
rs56107139	1.00[EUR][1000 genomes]
rs59173350	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59476102	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59796533	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7295338	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs73279107	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73279120	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73279132	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73279138	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73279180	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73279189	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74080462	1.00[EUR][1000 genomes]
rs74080477	1.00[EUR][1000 genomes]
rs74080481	1.00[EUR][1000 genomes]
rs7955554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899049	chr12:45299202-45376053	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv899050	chr12:45299202-45400614	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv899051	chr12:45307633-45376053	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv527565	chr12:45319767-45365812	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45322600-45325000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:45323600-45325000	Enhancers	Fetal Brain Male	brain
3	chr12:45324200-45325000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:45324200-45325000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:45324400-45325000	Enhancers	Primary T cells from cord blood	blood
6	chr12:45324400-45325000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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