Variant report

Variant	rs73138353
Chromosome Location	chr5:95562953-95562954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95562010..95564635-chr5:95566152..95567653,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs13359670	1.00[AMR][1000 genomes]
rs4594875	0.93[AFR][1000 genomes]
rs57207208	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57420820	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58062605	1.00[AMR][1000 genomes]
rs58558890	1.00[AMR][1000 genomes]
rs58692306	1.00[AMR][1000 genomes]
rs59091392	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59443370	0.83[AFR][1000 genomes]
rs61032727	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73134324	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73134332	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73134336	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73134341	0.83[AFR][1000 genomes]
rs73134346	0.83[AFR][1000 genomes]
rs73134351	0.83[AFR][1000 genomes]
rs73134353	0.83[AFR][1000 genomes]
rs73136598	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73138325	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73138330	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73138335	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73138361	1.00[AMR][1000 genomes]
rs73138362	1.00[AMR][1000 genomes]
rs73138363	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73138367	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73138370	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73138373	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73138391	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73138393	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73144658	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73144659	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73144661	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73144668	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73144670	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73144673	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73144675	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73144682	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73144684	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73144687	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7727999	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv882390	chr5:95486940-95591580	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv830410	chr5:95505799-95666310	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv518730	chr5:95547545-95569569	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr5:95561800-95563800	Enhancers	Ovary	ovary
2	chr5:95561800-95564000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:95561800-95564000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:95561800-95564200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:95561800-95564200	Enhancers	NHLF	lung
6	chr5:95561800-95565200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:95562000-95563800	Enhancers	Aorta	Aorta
8	chr5:95562400-95563000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:95562400-95563000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr5:95562400-95563000	Flanking Active TSS	Osteobl	bone
11	chr5:95562400-95563400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:95562400-95563400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:95562400-95563600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:95562400-95563600	Enhancers	Fetal Muscle Leg	muscle
15	chr5:95562400-95563800	Enhancers	NHEK	skin
16	chr5:95562400-95564200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr5:95562600-95563000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:95562600-95563000	Active TSS	Brain Angular Gyrus	brain
19	chr5:95562600-95563000	Active TSS	Brain Hippocampus Middle	brain
20	chr5:95562600-95563000	Flanking Active TSS	Fetal Lung	lung
21	chr5:95562600-95563000	Enhancers	Placenta Amnion	Placenta Amnion
22	chr5:95562600-95563000	Enhancers	Stomach Smooth Muscle	stomach
23	chr5:95562600-95563200	Enhancers	Brain Anterior Caudate	brain
24	chr5:95562600-95563600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr5:95562600-95563600	Enhancers	A549	lung
26	chr5:95562600-95564000	Enhancers	Dnd41	blood
27	chr5:95562600-95566000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:95562600-95566200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:95562800-95563000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:95562800-95563000	Enhancers	Adipose Nuclei	Adipose
31	chr5:95562800-95563000	Active TSS	Brain Substantia Nigra	brain
32	chr5:95562800-95563200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr5:95562800-95563200	Enhancers	Colon Smooth Muscle	Colon
34	chr5:95562800-95563400	Enhancers	HSMM	muscle
35	chr5:95562800-95563400	Enhancers	HSMMtube	muscle
36	chr5:95562800-95563800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:95562800-95564400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:95562800-95564800	Enhancers	NH-A	brain
39	chr5:95562800-95565200	Enhancers	NHDF-Ad	bronchial
40	chr5:95562800-95565400	Enhancers	HMEC	breast
41	chr5:95562800-95565600	Weak transcription	HepG2	liver

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