Variant report

Variant	rs11168979
Chromosome Location	chr12:39044427-39044428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1021258	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1038540	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10747574	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10875959	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10875962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10875963	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1095577	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11168552	0.84[ASN][1000 genomes]
rs11169068	0.82[AMR][1000 genomes]
rs11169095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169407	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12309958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12318974	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12322362	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12578804	1.00[CEU][hapmap]
rs12580227	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12580606	1.00[CEU][hapmap]
rs12581365	0.82[AMR][1000 genomes]
rs1472657	1.00[ASN][1000 genomes]
rs1486349	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1486352	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1486353	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1502631	0.84[ASN][1000 genomes]
rs1615569	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1619885	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1620594	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1620655	1.00[CEU][hapmap];0.95[JPT][hapmap]
rs1624751	1.00[JPT][hapmap]
rs1684419	1.00[CEU][hapmap]
rs1684420	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs1684421	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17126226	1.00[CEU][hapmap]
rs1719846	1.00[CEU][hapmap];0.95[JPT][hapmap]
rs1827459	0.88[ASN][1000 genomes]
rs1843640	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1843641	1.00[CEU][hapmap]
rs1847181	0.94[ASN][1000 genomes]
rs1872638	0.82[AMR][1000 genomes]
rs1906043	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2101370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2264357	0.95[ASN][1000 genomes]
rs2388058	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2630779	0.99[ASN][1000 genomes]
rs2653739	0.93[ASN][1000 genomes]
rs2653757	0.94[ASN][1000 genomes]
rs2653762	0.99[ASN][1000 genomes]
rs2653770	0.88[ASN][1000 genomes]
rs2653777	0.84[ASN][1000 genomes]
rs2730891	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2730911	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2730923	0.84[ASN][1000 genomes]
rs2730931	1.00[CEU][hapmap];0.83[ASN][1000 genomes]
rs2730938	0.85[ASN][1000 genomes]
rs4238079	0.97[ASN][1000 genomes]
rs4293160	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4767968	0.97[ASN][1000 genomes]
rs5005131	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7297083	1.00[CEU][hapmap]
rs7957523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7976054	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7980889	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs826842	1.00[CEU][hapmap]
rs826878	0.89[JPT][hapmap]
rs826893	0.90[JPT][hapmap]
rs864324	0.90[JPT][hapmap]
rs923200	0.97[ASN][1000 genomes]
rs9645814	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9805091	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422488	chr12:38103874-39070734	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv469356	chr12:38242029-39187408	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv558574	chr12:38242029-39187408	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1039538	chr12:38640895-39180750	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1039821	chr12:38959645-39121578	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1053316	chr12:38959645-39122853	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1043831	chr12:38979065-39117868	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv541479	chr12:38979065-39117868	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv1045040	chr12:39038114-39084094	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
10	esv2757499	chr12:39041835-39045983	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
11	esv2759894	chr12:39041835-39045983	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39039400-39053000	Weak transcription	Left Ventricle	heart
2	chr12:39039800-39055800	Weak transcription	Hela-S3	cervix
3	chr12:39041400-39049400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:39043200-39049800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:39043400-39045200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:39043800-39050600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:39044000-39045200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:39044200-39055400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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