Variant report

Variant	rs4890311
Chromosome Location	chr18:43627353-43627354
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43619151..43621906-chr18:43625373..43627429,3	K562	blood:

Variant related genes	Relation type
ENSG00000152229	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12966247	0.88[EUR][1000 genomes]
rs4890312	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6507663	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7238347	0.83[EUR][1000 genomes]
rs8096719	0.91[EUR][1000 genomes]
rs9962297	0.84[EUR][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:45 , 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	chr18:43609800-43628000	Weak transcription	Fetal Intestine Small	intestine
7	chr18:43617400-43631800	Weak transcription	Left Ventricle	heart
8	chr18:43618800-43631000	Weak transcription	Liver	Liver
9	chr18:43618800-43631400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr18:43620200-43636000	Weak transcription	Lung	lung
11	chr18:43622800-43632000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr18:43623000-43631800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr18:43623000-43631800	Weak transcription	HSMM	muscle
14	chr18:43623400-43630200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr18:43623400-43631800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr18:43623400-43632000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr18:43623400-43635000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr18:43623400-43635000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr18:43623400-43635000	Weak transcription	Fetal Thymus	thymus
20	chr18:43623600-43632000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr18:43623800-43627400	Weak transcription	HMEC	breast
22	chr18:43623800-43631800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr18:43623800-43632000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr18:43623800-43632000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr18:43623800-43634600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr18:43624200-43631800	Weak transcription	Pancreas	Pancrea
27	chr18:43625800-43627600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr18:43626200-43627600	Enhancers	Spleen	Spleen
29	chr18:43626200-43631800	Weak transcription	Stomach Mucosa	stomach
30	chr18:43626400-43627600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr18:43626400-43632000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr18:43626400-43636000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr18:43626600-43627400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr18:43626600-43628400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr18:43626600-43631800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr18:43626600-43631800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr18:43626600-43635000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr18:43626800-43628200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr18:43626800-43628400	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr18:43626800-43629200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr18:43626800-43631800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr18:43626800-43631800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr18:43626800-43631800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr18:43627000-43631800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr18:43627200-43634200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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