Variant report

Variant	rs7709217
Chromosome Location	chr5:101959695-101959696
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10035507	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10038730	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10045929	1.00[JPT][hapmap]
rs10051006	1.00[JPT][hapmap]
rs10057940	1.00[ASN][1000 genomes]
rs10059568	1.00[ASN][1000 genomes]
rs10059604	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10060403	1.00[JPT][hapmap]
rs10066065	1.00[ASN][1000 genomes]
rs10069964	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070269	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10073454	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10075530	1.00[JPT][hapmap]
rs10077046	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10477819	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10479237	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10515328	0.93[ASN][1000 genomes]
rs10515329	0.93[ASN][1000 genomes]
rs13357560	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13361792	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1502843	0.93[ASN][1000 genomes]
rs1502850	0.93[ASN][1000 genomes]
rs17150488	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17151033	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17151574	0.93[ASN][1000 genomes]
rs17152198	1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28415625	0.93[ASN][1000 genomes]
rs56181501	0.93[ASN][1000 genomes]
rs58139210	0.93[ASN][1000 genomes]
rs6596500	0.93[ASN][1000 genomes]
rs6862833	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6866284	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6870113	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6870270	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6876722	1.00[JPT][hapmap]
rs6883528	1.00[JPT][hapmap]
rs6885350	1.00[JPT][hapmap]
rs6885781	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6885940	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6890447	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6898458	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs72779996	0.93[ASN][1000 genomes]
rs72779997	0.93[ASN][1000 genomes]
rs7705924	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7728204	0.93[ASN][1000 genomes]
rs9327866	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9686862	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9687561	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817537	chr5:101489151-101992104	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1016176	chr5:101534391-102333606	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv537831	chr5:101534391-102333606	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1029894	chr5:101620079-102516827	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv1033193	chr5:101859229-102420837	Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1033405	chr5:101912749-102005038	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
7	nsv427728	chr5:101937704-102103247	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers 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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101954600-101960400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:101955200-101960000	Weak transcription	Colon Smooth Muscle	Colon
3	chr5:101956600-101960200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:101957600-101960400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:101958400-101960200	Weak transcription	Fetal Heart	heart
6	chr5:101958400-101962800	Weak transcription	HSMM	muscle
7	chr5:101958400-101963000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:101958600-101960200	Weak transcription	NHDF-Ad	bronchial
9	chr5:101958600-101961200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:101959000-101960600	Enhancers	Fetal Brain Female	brain
11	chr5:101959200-101959800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:101959200-101960200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr5:101959200-101960400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:101959200-101961000	Enhancers	Brain Germinal Matrix	brain
15	chr5:101959200-101961600	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr5:101959400-101962200	Weak transcription	Aorta	Aorta
17	chr5:101959400-101962600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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