Variant report

Variant	rs4890313
Chromosome Location	chr18:43629465-43629466
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11876373	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12607480	0.86[CHB][hapmap]
rs12953780	0.81[JPT][hapmap]
rs12963169	0.89[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1791407	0.83[CHB][hapmap]
rs1791413	0.83[CHB][hapmap]
rs1791414	0.83[CHB][hapmap]
rs1866322	0.88[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap]
rs2578184	0.85[EUR][1000 genomes]
rs2578187	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs2578189	0.82[CHB][hapmap]
rs2578190	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2578193	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28372325	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2852362	0.85[EUR][1000 genomes]
rs2852363	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28524126	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2853801	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2853802	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28689081	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28805990	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35122885	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35657986	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3744992	0.86[CHB][hapmap]
rs4243278	0.86[CHB][hapmap]
rs4550555	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs474878	0.85[EUR][1000 genomes]
rs4890312	0.83[CHB][hapmap];0.82[ASN][1000 genomes]
rs4890314	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4890616	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4890617	1.00[CEU][hapmap];0.86[CHB][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4890618	1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4890619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4890620	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4890624	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58397883	0.98[ASN][1000 genomes]
rs60986007	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6507663	0.83[ASN][1000 genomes]
rs7226742	1.00[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7227301	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8083916	0.82[CHB][hapmap]
rs8085233	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8085773	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8096256	1.00[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9946543	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9946831	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9950343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9952157	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9954534	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9956803	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9957804	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9958257	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9961163	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9964180	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9965365	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs9966603	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064882	chr18:43558343-43687674	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543693	chr18:43558343-43687674	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43608600-43651000	Weak transcription	Esophagus	oesophagus
2	chr18:43608800-43631800	Weak transcription	NHLF	lung
3	chr18:43608800-43632000	Weak transcription	Aorta	Aorta
4	chr18:43609000-43631800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr18:43609000-43631800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr18:43617400-43631800	Weak transcription	Left Ventricle	heart
7	chr18:43618800-43631000	Weak transcription	Liver	Liver
8	chr18:43618800-43631400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:43620200-43636000	Weak transcription	Lung	lung
10	chr18:43622800-43632000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr18:43623000-43631800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr18:43623000-43631800	Weak transcription	HSMM	muscle
13	chr18:43623400-43630200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:43623400-43631800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr18:43623400-43632000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr18:43623400-43635000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr18:43623400-43635000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr18:43623400-43635000	Weak transcription	Fetal Thymus	thymus
19	chr18:43623600-43632000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr18:43623800-43631800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr18:43623800-43632000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr18:43623800-43632000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr18:43623800-43634600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr18:43624200-43631800	Weak transcription	Pancreas	Pancrea
25	chr18:43626200-43631800	Weak transcription	Stomach Mucosa	stomach
26	chr18:43626400-43632000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr18:43626400-43636000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr18:43626600-43631800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr18:43626600-43631800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr18:43626600-43635000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr18:43626800-43631800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr18:43626800-43631800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr18:43626800-43631800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr18:43627000-43631800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr18:43627200-43634200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr18:43627600-43629600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr18:43627600-43635000	Weak transcription	Spleen	Spleen
38	chr18:43628400-43631800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr18:43628600-43632000	Weak transcription	Fetal Kidney	kidney
40	chr18:43628800-43631200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr18:43628800-43631600	Weak transcription	HMEC	breast
42	chr18:43629000-43631600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr18:43629000-43632000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr18:43629200-43631800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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