Variant report

Variant	rs7239724
Chromosome Location	chr18:7926861-7926862
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:25)

rs_ID	r²[population]
rs2099932	0.83[AMR][1000 genomes]
rs28367342	0.83[AMR][1000 genomes]
rs28379285	0.83[AMR][1000 genomes]
rs28523954	1.00[AMR][1000 genomes]
rs28569201	0.83[AMR][1000 genomes]
rs28644497	1.00[AMR][1000 genomes]
rs28757770	1.00[AMR][1000 genomes]
rs6506541	0.83[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7239846	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7241071	0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9944589	0.83[YRI][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9945054	1.00[AMR][1000 genomes]
rs9948263	0.83[AMR][1000 genomes]
rs9949297	0.83[AMR][1000 genomes]
rs9951398	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9952921	0.83[AMR][1000 genomes]
rs9955097	0.83[AMR][1000 genomes]
rs9955973	0.83[AMR][1000 genomes]
rs9958058	0.83[AMR][1000 genomes]
rs9963467	0.83[AMR][1000 genomes]
rs9963748	1.00[AMR][1000 genomes]
rs9964734	0.97[AFR][1000 genomes]
rs9965536	1.00[AMR][1000 genomes]
rs9966712	1.00[AMR][1000 genomes]
rs9967327	0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7922400-7927200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr18:7922400-7940600	Weak transcription	Gastric	stomach
3	chr18:7923000-7936200	Weak transcription	Thymus	Thymus
4	chr18:7923400-7932400	Weak transcription	HSMM	muscle
5	chr18:7923400-7937400	Weak transcription	Right Ventricle	heart
6	chr18:7923400-7945800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr18:7923600-7927200	Weak transcription	Osteobl	bone
8	chr18:7923600-7937000	Weak transcription	Adipose Nuclei	Adipose
9	chr18:7923800-7928200	Weak transcription	Colon Smooth Muscle	Colon
10	chr18:7923800-7936800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr18:7924400-7940400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr18:7925000-7927000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr18:7925000-7933000	Weak transcription	Right Atrium	heart
14	chr18:7925000-7936200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:7925200-7931800	Weak transcription	HepG2	liver
16	chr18:7925600-7927200	Weak transcription	Fetal Thymus	thymus
17	chr18:7925600-7927400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr18:7925800-7940400	Weak transcription	Fetal Muscle Leg	muscle
19	chr18:7926000-7931800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr18:7926000-7936600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr18:7926200-7936200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr18:7926400-7927000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr18:7926400-7927800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr18:7926400-7927800	Enhancers	Fetal Kidney	kidney
25	chr18:7926400-7940200	Weak transcription	Brain Germinal Matrix	brain
26	chr18:7926400-7945200	Weak transcription	Ovary	ovary
27	chr18:7926600-7927400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr18:7926600-7927400	Enhancers	Fetal Intestine Small	intestine
29	chr18:7926600-7927400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr18:7926600-7927600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr18:7926600-7927600	Enhancers	Stomach Mucosa	stomach
32	chr18:7926600-7927800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr18:7926600-7928000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr18:7926600-7928000	Enhancers	Pancreas	Pancrea
35	chr18:7926800-7927200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr18:7926800-7927200	Weak transcription	Aorta	Aorta
37	chr18:7926800-7927200	Weak transcription	Left Ventricle	heart
38	chr18:7926800-7927200	Weak transcription	Small Intestine	intestine
39	chr18:7926800-7927200	Enhancers	A549	lung
40	chr18:7926800-7927400	Enhancers	Hela-S3	cervix
41	chr18:7926800-7928000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr18:7926800-7929800	Weak transcription	Psoas Muscle	Psoas
43	chr18:7926800-7936600	Weak transcription	Fetal Stomach	stomach
44	chr18:7926800-7945600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr18:7926800-7945800	Weak transcription	Fetal Lung	lung

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