Variant report

Variant	rs3786153
Chromosome Location	chr18:7955525-7955526
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1002715	0.93[ASW][hapmap];0.96[CEU][hapmap];0.93[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1016188	0.93[ASW][hapmap];0.96[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10853358	0.88[YRI][hapmap]
rs11081352	0.92[LWK][hapmap];0.94[MKK][hapmap];0.96[YRI][hapmap]
rs1470323	0.92[LWK][hapmap];0.93[MKK][hapmap];0.96[YRI][hapmap]
rs1942959	0.86[YRI][hapmap]
rs4798607	0.96[YRI][hapmap]
rs5000485	0.92[LWK][hapmap];0.94[MKK][hapmap];0.88[YRI][hapmap]
rs506248	0.85[LWK][hapmap]
rs511993	0.81[LWK][hapmap]
rs552448	0.80[LWK][hapmap]
rs567523	0.87[LWK][hapmap];0.93[MKK][hapmap]
rs618104	0.81[LWK][hapmap];0.82[MKK][hapmap]
rs649598	0.81[LWK][hapmap];0.93[MKK][hapmap]
rs6506540	0.82[YRI][hapmap]
rs6506542	0.92[LWK][hapmap];0.91[MKK][hapmap];0.92[YRI][hapmap]
rs7233195	0.82[YRI][hapmap]
rs7234055	0.95[YRI][hapmap]
rs731283	0.81[AFR][1000 genomes]
rs8082776	0.95[LWK][hapmap];0.94[MKK][hapmap];0.92[YRI][hapmap]
rs8089387	0.92[LWK][hapmap];0.93[MKK][hapmap];0.96[YRI][hapmap]
rs8096083	0.82[YRI][hapmap]
rs9807298	0.96[YRI][hapmap]

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	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7932200-7961000	Weak transcription	HepG2	liver
2	chr18:7941800-7966400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr18:7946200-7958200	Weak transcription	Aorta	Aorta
4	chr18:7947200-7955600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr18:7947200-7955800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr18:7947200-7958200	Weak transcription	Colon Smooth Muscle	Colon
7	chr18:7947200-7981400	Weak transcription	Fetal Stomach	stomach
8	chr18:7947400-7958200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr18:7947400-7958400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr18:7947400-7959200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr18:7947400-7963400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr18:7947400-7963600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:7947400-7965600	Weak transcription	Thymus	Thymus
14	chr18:7947600-7956600	Weak transcription	Brain Hippocampus Middle	brain
15	chr18:7947600-7958200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr18:7947800-7957000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr18:7947800-7957400	Weak transcription	Spleen	Spleen
18	chr18:7947800-7958400	Weak transcription	Brain Anterior Caudate	brain
19	chr18:7947800-7958400	Weak transcription	Gastric	stomach
20	chr18:7947800-7958600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr18:7947800-7967600	Weak transcription	Primary T cells from cord blood	blood
22	chr18:7948000-7956600	Weak transcription	Lung	lung
23	chr18:7948000-7957000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr18:7948000-7959600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr18:7948000-7965800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr18:7948000-7967200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr18:7948000-7975000	Weak transcription	Pancreas	Pancrea
28	chr18:7950800-7956200	Weak transcription	Fetal Intestine Small	intestine
29	chr18:7951000-7958600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr18:7951200-7958000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr18:7951200-7958200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr18:7951200-7963400	Weak transcription	Adipose Nuclei	Adipose
33	chr18:7951400-7956600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr18:7951600-7958400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr18:7951600-7965800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr18:7953200-7955600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr18:7953600-7958800	Weak transcription	Fetal Heart	heart
38	chr18:7953800-7958400	Enhancers	Hela-S3	cervix
39	chr18:7954000-7956600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr18:7954200-7957400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr18:7954200-7957400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr18:7954200-7957400	Weak transcription	GM12878-XiMat	blood
43	chr18:7954400-7956800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr18:7954400-7958200	Weak transcription	NHDF-Ad	bronchial
45	chr18:7954400-7966000	Weak transcription	Fetal Kidney	kidney
46	chr18:7955000-7955600	Genic enhancers	Left Ventricle	heart
47	chr18:7955000-7955600	Genic enhancers	Psoas Muscle	Psoas
48	chr18:7955000-7956000	Enhancers	Fetal Lung	lung
49	chr18:7955000-7956000	Weak transcription	A549	lung
50	chr18:7955000-7956200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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