Variant report

Variant	nsv600041
Chromosome Location	chr5:151508799-151518810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:151509815..151512281-chr5:151517345..151519719,2	MCF-7	breast:
2	chr5:151513919..151516215-chr5:151517657..151519224,2	K562	blood:
3	chr5:151513919..151516215-chr5:151517657..151519224,2	K562	blood:
4	chr5:151513671..151516215-chr5:151517705..151520059,3	K562	blood:
5	chr5:151509815..151512281-chr5:151517345..151519719,2	MCF-7	breast:
6	chr5:151513671..151516215-chr5:151517705..151520059,3	K562	blood:

Extended variants
information (count: 281 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs29837	chr5:151508799-151508800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184092356	chr5:151508825-151508826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572860894	chr5:151508854-151508855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142726415	chr5:151508905-151508906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565484837	chr5:151508914-151508915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532828998	chr5:151508949-151508950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12652437	chr5:151508977-151508978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550926178	chr5:151509010-151509011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563073728	chr5:151509033-151509034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529833688	chr5:151509034-151509035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188876867	chr5:151509059-151509060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538456023	chr5:151509089-151509090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556506753	chr5:151509104-151509105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566480611	chr5:151509118-151509119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533820081	chr5:151509145-151509146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28378200	chr5:151509198-151509199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs570690667	chr5:151509202-151509203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114031209	chr5:151509278-151509279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556107003	chr5:151509287-151509288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574540654	chr5:151509316-151509317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577752423	chr5:151509443-151509444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs151242272	chr5:151509492-151509493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543563293	chr5:151509540-151509541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140430685	chr5:151509541-151509542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115909946	chr5:151509543-151509544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542398794	chr5:151509584-151509585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150406638	chr5:151509634-151509635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369568169	chr5:151509646-151509647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs29836	chr5:151509649-151509650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs572876938	chr5:151509665-151509666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75791115	chr5:151509683-151509684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181582447	chr5:151509718-151509719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530272545	chr5:151509738-151509739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563359291	chr5:151509762-151509763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186136311	chr5:151509764-151509765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12657138	chr5:151509781-151509782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs73274922	chr5:151509801-151509802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs373325356	chr5:151509803-151509804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114243705	chr5:151509804-151509805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551915575	chr5:151509813-151509814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528916666	chr5:151509851-151509852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570399721	chr5:151509868-151509869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79685519	chr5:151509928-151509929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565681816	chr5:151509947-151509948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550009003	chr5:151509949-151509950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567917507	chr5:151509974-151509975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74420449	chr5:151509986-151509987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553539998	chr5:151510017-151510018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566656925	chr5:151510026-151510027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534004400	chr5:151510085-151510086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Parkinson disease	21829596	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151505600-151511600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:151511600-151512000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:151513800-151515000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr5:151515000-151518200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:151516000-151516800	Enhancers	Fetal Lung	lung
6	chr5:151516200-151517200	Enhancers	Brain Hippocampus Middle	brain
7	chr5:151516400-151518600	Enhancers	Ovary	ovary
8	chr5:151516600-151516800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:151516600-151516800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr5:151516600-151518000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:151517600-151518200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:151518200-151518600	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr5:151518600-151531200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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