Variant report

Variant	nsv1034696
Chromosome Location	chr5:124616571-124654771
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:124608857..124611312-chr5:124615964..124618402,2	MCF-7	breast:

Extended variants
information (count: 1619 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1619 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563538037	chr5:124616576-124616577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570873122	chr5:124616621-124616622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75732497	chr5:124616631-124616632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs80237250	chr5:124616633-124616634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372651178	chr5:124616670-124616671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555513526	chr5:124616728-124616729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531051349	chr5:124616739-124616740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182251781	chr5:124616788-124616789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62373322	chr5:124616790-124616791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs528462242	chr5:124616791-124616792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77178179	chr5:124616817-124616818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6595606	chr5:124616828-124616829	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs145597675	chr5:124616849-124616850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72781129	chr5:124616876-124616877	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs187708413	chr5:124616883-124616884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536482507	chr5:124616889-124616890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554826379	chr5:124616890-124616891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566675343	chr5:124616897-124616898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148904580	chr5:124616903-124616904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558271737	chr5:124616926-124616927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140616205	chr5:124617014-124617015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560125207	chr5:124617015-124617016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576477697	chr5:124617049-124617050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543894161	chr5:124617053-124617054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143536600	chr5:124617080-124617081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191197974	chr5:124617113-124617114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183270146	chr5:124617185-124617186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1371371	chr5:124617232-124617233	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs955183	chr5:124617236-124617237	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs13162906	chr5:124617261-124617262	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs565274760	chr5:124617268-124617269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35669092	chr5:124617310-124617311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188540205	chr5:124617323-124617324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551076647	chr5:124617351-124617352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192095326	chr5:124617356-124617357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs118149537	chr5:124617357-124617358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531801456	chr5:124617390-124617391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138130720	chr5:124617400-124617401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142046140	chr5:124617429-124617430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185033860	chr5:124617470-124617471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187989069	chr5:124617472-124617473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111231868	chr5:124617557-124617558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61250786	chr5:124617574-124617575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115301476	chr5:124617578-124617579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11746365	chr5:124617602-124617603	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs555815443	chr5:124617607-124617608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564121608	chr5:124617691-124617692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141630545	chr5:124617695-124617696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368614479	chr5:124617778-124617779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545216438	chr5:124617781-124617782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

Chromatin state (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124611600-124617200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:124611600-124617200	Weak transcription	Colon Smooth Muscle	Colon
3	chr5:124611800-124617200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:124612800-124616800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:124612800-124617200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr5:124613600-124617200	Weak transcription	Fetal Heart	heart
7	chr5:124614400-124631400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:124616200-124617000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:124616800-124617600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:124617000-124617600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:124617200-124617600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:124617200-124617600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr5:124617200-124617600	Enhancers	Colon Smooth Muscle	Colon
14	chr5:124617200-124617600	Enhancers	Rectal Smooth Muscle	rectum
15	chr5:124617200-124617800	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr5:124617200-124617800	Enhancers	Fetal Heart	heart
17	chr5:124617600-124618800	Weak transcription	Colon Smooth Muscle	Colon
18	chr5:124617600-124622000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:124617800-124619000	Weak transcription	Fetal Heart	heart
20	chr5:124618400-124619800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:124619000-124619200	Enhancers	Colon Smooth Muscle	Colon
22	chr5:124619000-124619200	Enhancers	Fetal Heart	heart
23	chr5:124622000-124622400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:124622000-124622400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:124622000-124622400	Enhancers	Fetal Brain Male	brain
26	chr5:124622000-124622400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr5:124622400-124627200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:124622400-124628600	Weak transcription	Fetal Brain Male	brain
29	chr5:124623600-124623800	Enhancers	Psoas Muscle	Psoas
30	chr5:124623800-124624400	Weak transcription	Psoas Muscle	Psoas
31	chr5:124624400-124624600	Enhancers	Psoas Muscle	Psoas
32	chr5:124624400-124624800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:124624600-124628000	Enhancers	Liver	Liver
34	chr5:124626400-124626600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:124626400-124626800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:124626600-124627200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:124627200-124627400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:124627200-124627600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr5:124627200-124627600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr5:124627200-124627800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr5:124627200-124627800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr5:124627400-124627600	Enhancers	Fetal Brain Female	brain
43	chr5:124627400-124628800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:124627600-124628600	Weak transcription	Fetal Brain Female	brain
45	chr5:124627600-124629200	Enhancers	Primary B cells from peripheral blood	blood
46	chr5:124627800-124633800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr5:124628000-124629800	Enhancers	Dnd41	blood
48	chr5:124628400-124630800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:124628600-124629000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:124628600-124629000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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