Variant report

Variant	rs13321948
Chromosome Location	chr3:69937459-69937460
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11920509	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11921396	1.00[AMR][1000 genomes]
rs11924822	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13314417	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13315220	1.00[EUR][1000 genomes]
rs13316652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13325667	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17006549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17006569	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17006572	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17006575	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28754428	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35773003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41370746	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41440046	1.00[YRI][hapmap]
rs9818328	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9819125	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9827219	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9827735	0.89[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9833046	0.89[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9833501	0.89[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9837171	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9838445	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9842586	1.00[EUR][1000 genomes]
rs9843115	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9845314	1.00[EUR][1000 genomes]
rs9849776	1.00[EUR][1000 genomes]
rs9850565	0.89[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9859340	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3507784	chr3:69802539-69959607	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3507785	chr3:69802539-69959607	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69917200-69951200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:69920800-69937600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:69920800-69950800	Weak transcription	Ovary	ovary
4	chr3:69922400-69939000	Weak transcription	NHLF	lung
5	chr3:69923000-69937800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:69927000-69937600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr3:69927000-69938200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr3:69927600-69939200	Weak transcription	Stomach Mucosa	stomach
9	chr3:69928600-69938200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:69928600-69939000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:69928600-69939000	Weak transcription	Right Ventricle	heart
12	chr3:69928600-69942000	Weak transcription	Gastric	stomach
13	chr3:69928600-69950800	Weak transcription	Pancreas	Pancrea
14	chr3:69928600-69951000	Weak transcription	Lung	lung
15	chr3:69931200-69937800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr3:69933200-69937600	Weak transcription	Brain Anterior Caudate	brain
17	chr3:69933400-69938200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:69934000-69939000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:69934200-69937600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:69934200-69939400	Weak transcription	Hela-S3	cervix
21	chr3:69934600-69937600	Weak transcription	Aorta	Aorta
22	chr3:69934600-69937800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr3:69934600-69942600	Weak transcription	Adipose Nuclei	Adipose
24	chr3:69934600-69943600	Weak transcription	Left Ventricle	heart
25	chr3:69935000-69938400	Enhancers	Fetal Heart	heart
26	chr3:69935400-69939000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:69935400-69950800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr3:69935600-69937600	Weak transcription	Psoas Muscle	Psoas
29	chr3:69936000-69939200	Weak transcription	A549	lung
30	chr3:69936200-69941000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:69936400-69938600	Enhancers	Colon Smooth Muscle	Colon
32	chr3:69936800-69938400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr3:69937200-69937600	Weak transcription	Brain Angular Gyrus	brain
34	chr3:69937200-69938200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr3:69937200-69938200	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr3:69937200-69938600	Enhancers	Brain Substantia Nigra	brain
37	chr3:69937400-69937600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:69937400-69937800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr3:69937400-69937800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:69937400-69938200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
41	chr3:69937400-69938200	Active TSS	Brain Inferior Temporal Lobe	brain

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