Variant report

Variant	rs278914
Chromosome Location	chr12:41383773-41383774
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1083206	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11178929	0.87[ASN][1000 genomes]
rs11178961	0.87[ASN][1000 genomes]
rs11178966	1.00[ASN][1000 genomes]
rs11178968	0.87[ASN][1000 genomes]
rs11179174	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11179263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12296475	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12307865	1.00[ASN][1000 genomes]
rs12314872	0.87[ASN][1000 genomes]
rs12316203	0.87[ASN][1000 genomes]
rs12321608	0.87[ASN][1000 genomes]
rs12809837	0.87[ASN][1000 genomes]
rs12811839	0.87[ASN][1000 genomes]
rs12824182	0.87[ASN][1000 genomes]
rs13328933	1.00[ASN][1000 genomes]
rs13377827	0.87[ASN][1000 genomes]
rs1442183	1.00[ASN][1000 genomes]
rs1442190	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs157126	0.87[ASN][1000 genomes]
rs1866996	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2405509	0.87[ASN][1000 genomes]
rs278900	0.87[ASN][1000 genomes]
rs278901	0.87[ASN][1000 genomes]
rs278902	0.87[ASN][1000 genomes]
rs278903	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278906	1.00[JPT][hapmap]
rs280355	1.00[ASN][1000 genomes]
rs280356	0.87[ASN][1000 genomes]
rs280357	0.84[EUR][1000 genomes]
rs397967	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55653124	0.87[ASN][1000 genomes]
rs59142970	0.87[ASN][1000 genomes]
rs59599863	1.00[ASN][1000 genomes]
rs60409838	0.87[ASN][1000 genomes]
rs61443681	1.00[ASN][1000 genomes]
rs67249613	1.00[ASN][1000 genomes]
rs693762	1.00[ASN][1000 genomes]
rs7134389	1.00[ASN][1000 genomes]
rs7139018	1.00[ASN][1000 genomes]
rs7301266	1.00[ASN][1000 genomes]
rs7303815	0.87[ASN][1000 genomes]
rs7305416	0.87[ASN][1000 genomes]
rs7312528	1.00[ASN][1000 genomes]
rs7314325	0.87[ASN][1000 genomes]
rs73275677	1.00[ASN][1000 genomes]
rs73275694	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73277750	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9652040	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv832382	chr12:41359550-41489681	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1042296	chr12:41372512-41401840	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv428587	chr12:41375635-41546845	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41374600-41404800	Weak transcription	Brain Angular Gyrus	brain
2	chr12:41374800-41386200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:41377400-41386200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:41381200-41383800	Enhancers	Rectal Smooth Muscle	rectum
5	chr12:41381200-41384600	Enhancers	Colon Smooth Muscle	Colon
6	chr12:41381800-41383800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:41382800-41383800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:41382800-41383800	Enhancers	Stomach Smooth Muscle	stomach
9	chr12:41383400-41386400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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