Variant report

Variant	rs7236433
Chromosome Location	chr18:11689699-11689700
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1013459	0.84[ASN][1000 genomes]
rs16976596	0.92[ASN][1000 genomes]
rs17515304	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17515325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863122	0.84[ASN][1000 genomes]
rs2035194	0.84[ASN][1000 genomes]
rs2035195	0.84[ASN][1000 genomes]
rs28620345	0.92[ASN][1000 genomes]
rs57892223	0.84[ASN][1000 genomes]
rs61124787	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61670374	0.84[ASN][1000 genomes]
rs6505670	0.84[ASN][1000 genomes]
rs71367576	0.92[ASN][1000 genomes]
rs7237466	0.84[ASN][1000 genomes]
rs7237945	0.84[ASN][1000 genomes]
rs72881064	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8085488	0.84[ASN][1000 genomes]
rs8087266	0.84[ASN][1000 genomes]
rs8087897	0.84[ASN][1000 genomes]
rs8090096	0.84[ASN][1000 genomes]
rs8096345	0.84[ASN][1000 genomes]
rs8098596	0.84[ASN][1000 genomes]
rs8099016	0.84[ASN][1000 genomes]
rs8099179	0.84[ASN][1000 genomes]
rs8099342	0.84[ASN][1000 genomes]
rs8099486	0.92[ASN][1000 genomes]
rs9303742	0.92[ASN][1000 genomes]
rs9966615	0.85[AMR][1000 genomes];0.98[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	nsv1066659	chr18:11246502-11709409	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv518207	chr18:11670845-11695676	Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv516128	chr18:11683431-11695676	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11688600-11690200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
2	chr18:11688600-11690200	Active TSS	Rectal Smooth Muscle	rectum
3	chr18:11688600-11690400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr18:11688600-11690400	Active TSS	A549	lung
5	chr18:11688600-11690600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr18:11688600-11690600	Active TSS	HMEC	breast
7	chr18:11688800-11690000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
8	chr18:11688800-11690200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr18:11688800-11690200	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr18:11688800-11690200	Active TSS	Brain Substantia Nigra	brain
11	chr18:11688800-11690200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
12	chr18:11688800-11690400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr18:11688800-11690400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr18:11688800-11690400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr18:11688800-11690400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr18:11688800-11690400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr18:11688800-11690400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr18:11688800-11690400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr18:11688800-11690400	Active TSS	Aorta	Aorta
20	chr18:11688800-11690400	Enhancers	Fetal Heart	heart
21	chr18:11688800-11690400	Active TSS	Right Atrium	heart
22	chr18:11688800-11690400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
23	chr18:11688800-11690600	Active TSS	H9 Cell Line	embryonic stem cell
24	chr18:11688800-11690600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr18:11688800-11690600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr18:11689000-11689800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr18:11689000-11689800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr18:11689000-11689800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr18:11689000-11690000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr18:11689000-11690000	Flanking Active TSS	Liver	Liver
31	chr18:11689000-11690000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
32	chr18:11689000-11690000	Bivalent/Poised TSS	HSMMtube	muscle
33	chr18:11689000-11690200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr18:11689000-11690200	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr18:11689000-11690200	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr18:11689000-11690200	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr18:11689000-11690200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr18:11689000-11690200	Active TSS	Brain Angular Gyrus	brain
39	chr18:11689000-11690200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
40	chr18:11689000-11690200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
41	chr18:11689000-11690200	Active TSS	Gastric	stomach
42	chr18:11689000-11690200	Bivalent/Poised TSS	HepG2	liver
43	chr18:11689000-11690200	Active TSS	NHEK	skin
44	chr18:11689000-11690400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr18:11689000-11690400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr18:11689000-11690400	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr18:11689000-11690400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr18:11689000-11690400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
49	chr18:11689000-11690400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
50	chr18:11689000-11690400	Active TSS	Esophagus	oesophagus

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