Variant report

Variant	rs2483583
Chromosome Location	chr10:116354196-116354197
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11196778	0.83[EUR][1000 genomes]
rs12413487	0.86[CEU][hapmap];0.94[EUR][1000 genomes]
rs2483535	0.86[TSI][hapmap]
rs2483538	0.93[EUR][1000 genomes]
rs2483539	0.86[TSI][hapmap]
rs2483541	0.86[TSI][hapmap]
rs2483548	0.86[TSI][hapmap]
rs2483549	0.93[CEU][hapmap];0.93[GIH][hapmap];0.81[MEX][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs2483552	0.83[TSI][hapmap]
rs2483553	0.86[TSI][hapmap]
rs2483560	0.93[EUR][1000 genomes]
rs2483563	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2483568	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2483573	0.80[AMR][1000 genomes]
rs2483578	0.88[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483581	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483590	0.84[EUR][1000 genomes]
rs2497663	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2497730	0.86[TSI][hapmap]
rs2497731	0.86[TSI][hapmap]
rs2497733	0.93[CEU][hapmap];0.93[GIH][hapmap];0.81[MEX][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs2497743	0.93[EUR][1000 genomes]
rs2497747	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2497748	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2497749	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4128920	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs4998667	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58938015	0.94[EUR][1000 genomes]
rs60588618	0.84[EUR][1000 genomes]
rs72826986	0.84[EUR][1000 genomes]
rs72826987	0.83[EUR][1000 genomes]
rs72829115	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7913199	0.86[CEU][hapmap];0.86[GIH][hapmap];0.81[MEX][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes]
rs7915301	0.82[AMR][1000 genomes]
rs9421186	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9421190	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs985273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][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	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116336800-116359800	Weak transcription	Lung	lung
2	chr10:116336800-116360000	Weak transcription	Fetal Muscle Leg	muscle
3	chr10:116337000-116360200	Weak transcription	Esophagus	oesophagus
4	chr10:116337800-116362600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr10:116341400-116356800	Weak transcription	Brain Anterior Caudate	brain
6	chr10:116342200-116359800	Weak transcription	Adipose Nuclei	Adipose
7	chr10:116345000-116382400	Weak transcription	HSMM	muscle
8	chr10:116345800-116364000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr10:116346000-116356000	Weak transcription	Right Atrium	heart
10	chr10:116346200-116360000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr10:116346400-116355200	Weak transcription	Fetal Heart	heart
12	chr10:116347600-116357400	Weak transcription	Pancreas	Pancrea
13	chr10:116348600-116355800	Weak transcription	Right Ventricle	heart
14	chr10:116350600-116358800	Weak transcription	Liver	Liver
15	chr10:116352000-116354200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:116352200-116360600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr10:116352600-116356200	Weak transcription	HSMMtube	muscle
18	chr10:116352600-116360000	Weak transcription	Fetal Intestine Large	intestine
19	chr10:116352600-116367600	Weak transcription	Ovary	ovary
20	chr10:116352800-116354200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:116353000-116364200	Weak transcription	Psoas Muscle	Psoas
22	chr10:116353200-116364600	Weak transcription	Brain Hippocampus Middle	brain
23	chr10:116353400-116360000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr10:116353400-116361200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr10:116353400-116364000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr10:116353600-116356400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr10:116353600-116356400	Weak transcription	HepG2	liver
28	chr10:116353600-116357400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr10:116353600-116359200	Weak transcription	Fetal Intestine Small	intestine
30	chr10:116353600-116360000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr10:116353800-116354200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr10:116353800-116358600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr10:116354000-116354400	Genic enhancers	Left Ventricle	heart
34	chr10:116354000-116359800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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