Variant report

Variant	rs2267806
Chromosome Location	chr7:38450598-38450599
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs12530493	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12530528	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12531058	1.00[CEU][hapmap]
rs12533241	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17171381	1.00[CEU][hapmap];0.92[YRI][hapmap]
rs2080286	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2080287	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2215955	0.84[CHD][hapmap]
rs2276534	0.86[EUR][1000 genomes]
rs2276535	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.86[YRI][hapmap];0.86[EUR][1000 genomes]
rs2276538	0.86[EUR][1000 genomes]
rs2276539	0.86[EUR][1000 genomes]
rs2284246	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.86[EUR][1000 genomes]
rs2284247	0.86[EUR][1000 genomes]
rs2284249	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.86[YRI][hapmap];0.86[EUR][1000 genomes]
rs2284250	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.86[YRI][hapmap];0.86[EUR][1000 genomes]
rs2284251	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.86[EUR][1000 genomes]
rs2284252	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.86[EUR][1000 genomes]
rs2284254	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs3778888	1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs3807423	1.00[CEU][hapmap];0.82[MEX][hapmap];0.92[YRI][hapmap]
rs3807424	0.85[MEX][hapmap];0.83[MKK][hapmap];0.86[EUR][1000 genomes]
rs56706599	0.86[EUR][1000 genomes]
rs57288273	0.86[EUR][1000 genomes]
rs57362798	0.82[EUR][1000 genomes]
rs57878896	0.86[EUR][1000 genomes]
rs57991364	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs58270656	0.86[EUR][1000 genomes]
rs58483691	0.86[EUR][1000 genomes]
rs58689046	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs58755842	0.86[EUR][1000 genomes]
rs58875842	0.86[EUR][1000 genomes]
rs59610401	0.86[EUR][1000 genomes]
rs59702921	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs60239210	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs60743671	0.86[EUR][1000 genomes]
rs60820588	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs61552847	0.86[EUR][1000 genomes]
rs6967094	1.00[CEU][hapmap];0.92[YRI][hapmap]
rs73692332	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73692372	0.86[EUR][1000 genomes]
rs73692381	0.86[EUR][1000 genomes]
rs73692385	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73692388	0.86[EUR][1000 genomes]
rs7777736	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7802173	0.95[CHB][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758112	chr7:38218703-38523455	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	esv2759524	chr7:38218703-38523455	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv427776	chr7:38218703-38523455	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1025974	chr7:38227528-38503472	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv538819	chr7:38227528-38503472	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv932229	chr7:38248340-38727527	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv1020990	chr7:38257707-38503472	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv1019941	chr7:38319437-38472680	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv1031936	chr7:38319437-38503472	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv429745	chr7:38323485-38470561	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
11	nsv830965	chr7:38350614-38521047	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv830966	chr7:38393663-38602553	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38431600-38489000	Weak transcription	Brain Angular Gyrus	brain
2	chr7:38439000-38483000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:38444000-38468600	Weak transcription	Fetal Stomach	stomach
4	chr7:38444800-38467600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:38449400-38458000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:38449600-38450600	Enhancers	Fetal Heart	heart
7	chr7:38449600-38451200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:38449600-38454000	Enhancers	Primary B cells from peripheral blood	blood
9	chr7:38450000-38450800	Weak transcription	Aorta	Aorta
10	chr7:38450000-38457200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:38450200-38451600	Weak transcription	Primary B cells from cord blood	blood

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