Variant report

Variant	rs7243963
Chromosome Location	chr18:29882384-29882385
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10502593	1.00[CEU][hapmap]
rs10502597	1.00[CEU][hapmap]
rs10502598	1.00[CEU][hapmap]
rs10502599	1.00[CEU][hapmap]
rs11660076	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11661174	0.93[EUR][1000 genomes]
rs11661186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11661378	1.00[CEU][hapmap]
rs11662069	0.89[JPT][hapmap]
rs11664951	1.00[CEU][hapmap]
rs11665544	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11873828	1.00[CEU][hapmap]
rs11877881	1.00[CEU][hapmap]
rs12052010	1.00[CEU][hapmap]
rs1380086	1.00[CEU][hapmap]
rs16962918	0.90[EUR][1000 genomes]
rs16962924	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs16962941	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs16962953	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs16962965	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs16962971	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs16962974	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs16962977	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs16963129	1.00[CEU][hapmap]
rs16963184	1.00[CEU][hapmap]
rs17743799	1.00[CEU][hapmap]
rs17743907	1.00[CEU][hapmap]
rs17744164	1.00[CEU][hapmap]
rs17805881	1.00[CEU][hapmap]
rs17805905	1.00[CEU][hapmap]
rs17805953	1.00[CEU][hapmap]
rs17811420	1.00[CEU][hapmap]
rs17811474	1.00[CEU][hapmap]
rs17811780	1.00[CEU][hapmap]
rs28482447	0.93[EUR][1000 genomes]
rs3744921	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3859366	0.90[EUR][1000 genomes]
rs41535045	1.00[CEU][hapmap]
rs4462681	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs57141272	0.97[ASN][1000 genomes]
rs60291556	0.90[EUR][1000 genomes]
rs60935616	0.97[ASN][1000 genomes]
rs7243861	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419859	0.90[EUR][1000 genomes]
rs8086611	0.93[EUR][1000 genomes]
rs8086990	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs8087394	0.90[EUR][1000 genomes]
rs9916917	0.86[EUR][1000 genomes]
rs9947150	0.93[EUR][1000 genomes]
rs9950965	0.84[EUR][1000 genomes]
rs9953127	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs9960751	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs9962307	1.00[CEU][hapmap];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056007	chr18:29711974-29899564	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv833616	chr18:29792336-29964212	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv528846	chr18:29832147-29890042	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29868000-29888800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr18:29868000-29888800	Weak transcription	Brain Hippocampus Middle	brain
3	chr18:29868000-29889000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:29868000-29889000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr18:29868200-29889800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr18:29868200-29923800	Weak transcription	Gastric	stomach
7	chr18:29878400-29888800	Weak transcription	Liver	Liver
8	chr18:29878400-29890000	Weak transcription	Fetal Kidney	kidney
9	chr18:29878400-29896000	Weak transcription	Brain Anterior Caudate	brain
10	chr18:29878600-29888000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr18:29878600-29890200	Weak transcription	Brain Angular Gyrus	brain
12	chr18:29878800-29890000	Weak transcription	Fetal Brain Male	brain
13	chr18:29880800-29882800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr18:29880800-29883000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr18:29880800-29897000	Weak transcription	Lung	lung
16	chr18:29881200-29883000	Enhancers	Stomach Mucosa	stomach
17	chr18:29881200-29883000	Enhancers	Hela-S3	cervix
18	chr18:29881200-29883000	Enhancers	Osteobl	bone
19	chr18:29881200-29883400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr18:29881400-29882800	Enhancers	NH-A	brain
21	chr18:29881400-29883000	Enhancers	Adipose Nuclei	Adipose
22	chr18:29881400-29883000	Enhancers	HMEC	breast
23	chr18:29881400-29883200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr18:29881400-29883200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr18:29881400-29883800	Enhancers	Fetal Heart	heart
26	chr18:29881600-29882600	Weak transcription	Aorta	Aorta
27	chr18:29881600-29882600	Weak transcription	Right Atrium	heart
28	chr18:29881600-29882600	Enhancers	A549	lung
29	chr18:29881600-29882600	Weak transcription	HSMMtube	muscle
30	chr18:29881600-29882800	Weak transcription	Fetal Intestine Small	intestine
31	chr18:29881600-29882800	Weak transcription	Fetal Muscle Leg	muscle
32	chr18:29881600-29883200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr18:29881600-29892200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr18:29881800-29882600	Enhancers	NHEK	skin
35	chr18:29881800-29882800	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr18:29881800-29883400	Enhancers	Stomach Smooth Muscle	stomach
37	chr18:29881800-29888800	Weak transcription	Fetal Stomach	stomach
38	chr18:29882000-29882400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr18:29882000-29882400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr18:29882000-29882400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr18:29882000-29882600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr18:29882000-29882800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr18:29882000-29882800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr18:29882000-29882800	Enhancers	Small Intestine	intestine
45	chr18:29882000-29883000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr18:29882000-29888200	Weak transcription	HSMM	muscle
47	chr18:29882200-29882600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr18:29882200-29882800	Enhancers	NHLF	lung
49	chr18:29882200-29883000	Weak transcription	NHDF-Ad	bronchial
50	chr18:29882200-29888800	Weak transcription	Brain Inferior Temporal Lobe	brain

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