Variant report

Variant	rs9965475
Chromosome Location	chr18:43619492-43619493
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2289264	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28391547	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28432272	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28457629	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28528989	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28642893	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6507684	1.00[EUR][1000 genomes]
rs72903445	1.00[ASN][1000 genomes]
rs72903447	1.00[ASN][1000 genomes]
rs72903448	1.00[ASN][1000 genomes]
rs72903449	1.00[ASN][1000 genomes]
rs72903452	1.00[ASN][1000 genomes]
rs73438301	1.00[ASN][1000 genomes]
rs8084445	1.00[ASN][1000 genomes]
rs8095711	1.00[ASN][1000 genomes]
rs8098010	1.00[ASN][1000 genomes]
rs9944600	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9951642	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9954430	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9957650	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9964286	1.00[EUR][1000 genomes];1.00[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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43571400-43622000	Weak transcription	Gastric	stomach
2	chr18:43608600-43651000	Weak transcription	Esophagus	oesophagus
3	chr18:43608800-43619800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr18:43608800-43620000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr18:43608800-43620400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr18:43608800-43620600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr18:43608800-43620600	Weak transcription	Placenta	Placenta
8	chr18:43608800-43631800	Weak transcription	NHLF	lung
9	chr18:43608800-43632000	Weak transcription	Aorta	Aorta
10	chr18:43609000-43619600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr18:43609000-43619800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr18:43609000-43620000	Weak transcription	Lung	lung
13	chr18:43609000-43620000	Weak transcription	Ovary	ovary
14	chr18:43609000-43622200	Weak transcription	Brain Hippocampus Middle	brain
15	chr18:43609000-43622200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr18:43609000-43622200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr18:43609000-43622200	Weak transcription	Thymus	Thymus
18	chr18:43609000-43631800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr18:43609000-43631800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr18:43609200-43620000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr18:43609200-43620200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr18:43609600-43620000	Weak transcription	Fetal Intestine Large	intestine
23	chr18:43609800-43628000	Weak transcription	Fetal Intestine Small	intestine
24	chr18:43612000-43619600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr18:43612200-43620400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr18:43613200-43622200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr18:43613600-43620800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr18:43614600-43620000	Weak transcription	NH-A	brain
29	chr18:43614800-43621800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr18:43615400-43620000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr18:43615800-43622200	Weak transcription	Osteobl	bone
32	chr18:43616000-43619600	Weak transcription	Fetal Stomach	stomach
33	chr18:43616000-43620600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr18:43616000-43622200	Weak transcription	NHDF-Ad	bronchial
35	chr18:43616000-43622400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr18:43616400-43620200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr18:43617400-43620200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr18:43617400-43620400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr18:43617400-43631800	Weak transcription	Left Ventricle	heart
40	chr18:43617600-43621200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr18:43617800-43620000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr18:43617800-43620000	Weak transcription	HMEC	breast
43	chr18:43617800-43621800	Weak transcription	Adipose Nuclei	Adipose
44	chr18:43618200-43619800	Strong transcription	Primary hematopoietic stem cells	blood
45	chr18:43618200-43620000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr18:43618600-43619600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr18:43618600-43619600	Strong transcription	NHEK	skin
48	chr18:43618600-43620400	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr18:43618800-43631000	Weak transcription	Liver	Liver
50	chr18:43618800-43631400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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