Variant report

Variant	nsv880598
Chromosome Location	chr5:52379277-52382904
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:52380023..52382035-chr5:52385112..52387338,2	K562	blood:
2	chr5:52372832..52374615-chr5:52379311..52380988,2	K562	blood:
3	chr5:52372459..52375173-chr5:52375877..52379453,3	MCF-7	breast:
4	chr5:52285755..52287338-chr5:52380121..52382244,2	MCF-7	breast:
5	chr5:52381586..52383200-chr5:52383742..52385269,2	MCF-7	breast:
6	chr5:52382323..52385100-chr5:52387808..52389930,2	K562	blood:
7	chr5:52376435..52379263-chr5:52381516..52385182,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272123	chromatin interactions
ENSG00000249899	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2303122	chr5:52379277-52379278	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375048021	chr5:52379305-52379306	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs565504474	chr5:52379325-52379326	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs189291230	chr5:52379344-52379345	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs554472090	chr5:52379442-52379443	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs569602870	chr5:52379500-52379501	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs570905060	chr5:52379524-52379525	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs537093156	chr5:52379552-52379553	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs558910561	chr5:52379568-52379569	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs577271998	chr5:52379654-52379655	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs544117965	chr5:52379716-52379717	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs541480364	chr5:52379742-52379743	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs553624481	chr5:52379843-52379844	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs150171085	chr5:52379849-52379850	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs138358667	chr5:52379887-52379888	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs574669757	chr5:52380018-52380019	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs564011272	chr5:52380060-52380061	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs542078463	chr5:52380088-52380089	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs559909423	chr5:52380122-52380123	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs143292426	chr5:52380123-52380124	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs543053363	chr5:52380173-52380174	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs540740230	chr5:52380185-52380186	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs368762372	chr5:52380193-52380194	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs149245609	chr5:52380239-52380240	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs527243481	chr5:52380334-52380335	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs182254876	chr5:52380335-52380336	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs376256122	chr5:52380388-52380389	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs547062717	chr5:52380411-52380412	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs111507311	chr5:52380508-52380509	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs185995717	chr5:52380595-52380596	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs139989927	chr5:52380622-52380623	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs3212626	chr5:52380624-52380625	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs3212696	chr5:52380710-52380711	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs550145028	chr5:52380721-52380722	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs569664766	chr5:52380789-52380790	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs144142931	chr5:52380816-52380817	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs537307564	chr5:52380842-52380843	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs568618862	chr5:52380864-52380865	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs552302285	chr5:52380888-52380889	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs368938537	chr5:52380891-52380892	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs3212627	chr5:52380923-52380924	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs553536388	chr5:52381003-52381004	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs146195246	chr5:52381020-52381021	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs548027339	chr5:52381053-52381054	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs3212628	chr5:52381101-52381102	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs3212629	chr5:52381121-52381122	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs3212630	chr5:52381162-52381163	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs3212631	chr5:52381164-52381165	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs564750249	chr5:52381169-52381170	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs3212632	chr5:52381216-52381217	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52333800-52392600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr5:52334800-52380800	Weak transcription	Stomach Mucosa	stomach
3	chr5:52334800-52391200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:52336400-52399800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:52341200-52396400	Strong transcription	HMEC	breast
6	chr5:52341400-52396400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:52342600-52383800	Strong transcription	NHEK	skin
8	chr5:52343400-52392800	Weak transcription	Left Ventricle	heart
9	chr5:52346200-52386800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr5:52347600-52387000	Weak transcription	Fetal Stomach	stomach
11	chr5:52347800-52395000	Weak transcription	Psoas Muscle	Psoas
12	chr5:52348600-52394800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:52349400-52379600	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:52352400-52389800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:52356800-52394000	Weak transcription	Fetal Kidney	kidney
16	chr5:52359400-52380000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:52360200-52388800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:52361200-52392800	Weak transcription	Small Intestine	intestine
19	chr5:52362200-52387800	Strong transcription	HepG2	liver
20	chr5:52362400-52382400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:52363400-52382600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:52365800-52394800	Weak transcription	Right Ventricle	heart
23	chr5:52366000-52382800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:52367400-52386200	Strong transcription	HUVEC	blood vessel
25	chr5:52367400-52388000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:52367600-52381200	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr5:52367600-52385000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:52367800-52386000	Strong transcription	NH-A	brain
29	chr5:52368000-52386200	Weak transcription	Aorta	Aorta
30	chr5:52369000-52381000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:52369000-52392800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:52369400-52382600	Weak transcription	Brain Angular Gyrus	brain
33	chr5:52369400-52383600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:52369800-52379800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:52370400-52394600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:52370400-52404600	Weak transcription	Brain Germinal Matrix	brain
37	chr5:52372000-52382600	Weak transcription	Brain Anterior Caudate	brain
38	chr5:52372000-52394800	Weak transcription	Colonic Mucosa	Colon
39	chr5:52372000-52394800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr5:52372200-52382600	Weak transcription	Lung	lung
41	chr5:52372200-52382800	Weak transcription	Spleen	Spleen
42	chr5:52372200-52384800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr5:52372200-52392800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:52372200-52394800	Weak transcription	Gastric	stomach
45	chr5:52372200-52394800	Weak transcription	Pancreas	Pancrea
46	chr5:52372400-52385000	Weak transcription	Osteobl	bone
47	chr5:52372400-52404400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr5:52372800-52386400	Weak transcription	NHDF-Ad	bronchial
49	chr5:52373000-52385600	Weak transcription	Ovary	ovary
50	chr5:52373000-52387000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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