Variant report

Variant	nsv4953
Chromosome Location	chr5:108443905-108488747
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:108450522..108453452-chr5:108454004..108456725,2	K562	blood:
2	chr5:108441092..108442647-chr5:108444693..108446908,2	MCF-7	breast:
3	chr10:104927915..104928497-chr5:108463475..108464475,2	MCF-7	breast:
4	chr5:108450522..108453452-chr5:108454004..108456725,2	K562	blood:

Extended variants
information (count: 1825 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1825 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550216033	chr5:108443915-108443916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570026261	chr5:108443959-108443960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375636923	chr5:108443983-108443984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535388640	chr5:108444018-108444019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549256183	chr5:108444035-108444036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140968065	chr5:108444039-108444040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182591128	chr5:108444109-108444110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534802867	chr5:108444149-108444150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187882465	chr5:108444159-108444160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149772173	chr5:108444164-108444165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536706155	chr5:108444201-108444202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556540204	chr5:108444220-108444221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532892843	chr5:108444240-108444241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377732923	chr5:108444274-108444275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573296761	chr5:108444293-108444294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551406147	chr5:108444375-108444376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542196501	chr5:108444399-108444400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562391062	chr5:108444405-108444406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572579246	chr5:108444426-108444427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17534807	chr5:108444428-108444429	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs564634597	chr5:108444480-108444481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533476641	chr5:108444481-108444482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116072976	chr5:108444544-108444545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4957798	chr5:108444554-108444555	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs61383069	chr5:108444570-108444571	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs576191412	chr5:108444601-108444602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374593449	chr5:108444622-108444623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377359826	chr5:108444624-108444625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72796572	chr5:108444630-108444631	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs538098731	chr5:108444657-108444658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542793218	chr5:108444665-108444666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534588228	chr5:108444670-108444671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192007915	chr5:108444697-108444698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571060547	chr5:108444763-108444764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558120822	chr5:108444774-108444775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11958838	chr5:108444832-108444833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536794838	chr5:108444865-108444866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145693564	chr5:108444890-108444891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183379134	chr5:108444938-108444939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77915215	chr5:108445046-108445047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536222244	chr5:108445054-108445055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs28433735	chr5:108445056-108445057	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs149115216	chr5:108445070-108445071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541323691	chr5:108445094-108445095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146116481	chr5:108445122-108445123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375954494	chr5:108445143-108445144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543975138	chr5:108445189-108445190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563760035	chr5:108445219-108445220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138859273	chr5:108445221-108445222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543032296	chr5:108445254-108445255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
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
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Intellectual disability	21811512	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108422800-108444800	Weak transcription	Left Ventricle	heart
2	chr5:108435600-108446800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:108441400-108445400	Enhancers	Fetal Heart	heart
4	chr5:108441600-108447400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:108441600-108455600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:108441800-108455600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:108442000-108445000	Weak transcription	Brain Anterior Caudate	brain
8	chr5:108442000-108446800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:108442000-108497400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:108442200-108444200	Enhancers	HUVEC	blood vessel
11	chr5:108442400-108449000	Weak transcription	Pancreas	Pancrea
12	chr5:108442600-108444200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:108442800-108445200	Weak transcription	Osteobl	bone
14	chr5:108442800-108446000	Weak transcription	HSMM	muscle
15	chr5:108442800-108455600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:108444200-108447000	Weak transcription	HUVEC	blood vessel
17	chr5:108444200-108455600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:108445800-108448200	Weak transcription	Primary B cells from cord blood	blood
19	chr5:108446800-108447800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:108447000-108447800	Enhancers	HUVEC	blood vessel
21	chr5:108447400-108447600	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr5:108447800-108455800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:108455600-108455800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
24	chr5:108455800-108456200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
25	chr5:108455800-108456800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:108456800-108472800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:108458600-108458800	Enhancers	Dnd41	blood
28	chr5:108458800-108459600	Weak transcription	Dnd41	blood
29	chr5:108458800-108461000	Weak transcription	HMEC	breast
30	chr5:108459600-108461200	Enhancers	Dnd41	blood
31	chr5:108461200-108462200	Flanking Active TSS	Dnd41	blood
32	chr5:108461200-108462800	Enhancers	Fetal Heart	heart
33	chr5:108462000-108462200	Weak transcription	Pancreas	Pancrea
34	chr5:108462000-108462600	Enhancers	HSMM	muscle
35	chr5:108462200-108463000	Enhancers	Dnd41	blood
36	chr5:108462800-108468400	Weak transcription	Fetal Heart	heart
37	chr5:108463800-108468200	Weak transcription	Aorta	Aorta
38	chr5:108466400-108466600	Enhancers	Gastric	stomach
39	chr5:108466600-108468200	Weak transcription	Gastric	stomach
40	chr5:108468200-108468400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr5:108468200-108468600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:108468200-108468600	Enhancers	Adipose Nuclei	Adipose
43	chr5:108468200-108468600	Enhancers	Esophagus	oesophagus
44	chr5:108468200-108468600	Enhancers	Gastric	stomach
45	chr5:108468200-108468600	Enhancers	Ovary	ovary
46	chr5:108468200-108468600	Enhancers	Pancreas	Pancrea
47	chr5:108468200-108468800	Enhancers	Aorta	Aorta
48	chr5:108468200-108468800	Enhancers	Right Ventricle	heart
49	chr5:108468200-108468800	Enhancers	Small Intestine	intestine
50	chr5:108468200-108469600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links