Variant report

Variant	nsv348407
Chromosome Location	chr6:76192830-76195714
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	chr6:76193006..76194649-chr6:76195003..76197738,2	MCF-7	breast:
2	chr6:76193006..76194649-chr6:76195003..76197738,2	MCF-7	breast:

Extended variants
information (count: 109 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189121508	chr6:76192844-76192845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77420405	chr6:76192870-76192871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1336044	chr6:76192903-76192904	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs565323415	chr6:76192914-76192915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539378705	chr6:76192926-76192927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13207421	chr6:76192941-76192942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557630689	chr6:76192942-76192943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192308315	chr6:76192958-76192959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543202840	chr6:76192987-76192988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1336043	chr6:76192998-76192999	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs574803740	chr6:76193025-76193026	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs185587589	chr6:76193029-76193030	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs564896333	chr6:76193051-76193052	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs560498186	chr6:76193099-76193100	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs189314128	chr6:76193122-76193123	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs546560423	chr6:76193141-76193142	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs564728241	chr6:76193238-76193239	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs141420742	chr6:76193323-76193324	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs531937560	chr6:76193325-76193326	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs180947983	chr6:76193357-76193358	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs75201303	chr6:76193358-76193359	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs377094968	chr6:76193384-76193385	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs145189957	chr6:76193428-76193429	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs76213178	chr6:76193459-76193460	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs376022919	chr6:76193468-76193469	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs551855345	chr6:76193529-76193530	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs146880092	chr6:76193536-76193537	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs186189544	chr6:76193571-76193572	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs148971089	chr6:76193602-76193603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143774594	chr6:76193628-76193629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570162130	chr6:76193647-76193648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189497896	chr6:76193658-76193659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569583999	chr6:76193782-76193783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181392075	chr6:76193799-76193800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185920013	chr6:76193830-76193831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148214002	chr6:76193843-76193844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542003813	chr6:76193856-76193857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190685298	chr6:76193859-76193860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs28421275	chr6:76193946-76193947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572480312	chr6:76193987-76193988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2312929	chr6:76194007-76194008	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs183269982	chr6:76194021-76194022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187309243	chr6:76194022-76194023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116965340	chr6:76194037-76194038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537416018	chr6:76194055-76194056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562173773	chr6:76194072-76194073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201646721	chr6:76194104-76194105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148970002	chr6:76194108-76194109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372489519	chr6:76194129-76194130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529489735	chr6:76194144-76194145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelodysplastic syndrome	18508791	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76183000-76200800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:76187400-76194200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr6:76187800-76196000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:76189400-76193000	Enhancers	HSMMtube	muscle
5	chr6:76189600-76201200	Weak transcription	Lung	lung
6	chr6:76190000-76193000	Enhancers	Fetal Heart	heart
7	chr6:76190000-76193400	Enhancers	NHLF	lung
8	chr6:76190200-76193200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr6:76190200-76193800	Enhancers	Colon Smooth Muscle	Colon
10	chr6:76190200-76195000	Enhancers	A549	lung
11	chr6:76190400-76193200	Enhancers	Rectal Smooth Muscle	rectum
12	chr6:76190400-76193600	Enhancers	Adipose Nuclei	Adipose
13	chr6:76191200-76194400	Enhancers	HUVEC	blood vessel
14	chr6:76191400-76197000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:76191600-76193000	Weak transcription	Left Ventricle	heart
16	chr6:76191600-76193000	Weak transcription	Right Atrium	heart
17	chr6:76191600-76193400	Weak transcription	Aorta	Aorta
18	chr6:76191600-76193600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr6:76191600-76202200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:76192000-76193000	Weak transcription	Psoas Muscle	Psoas
21	chr6:76192000-76193200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr6:76192000-76193800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr6:76192000-76193800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:76192000-76193800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr6:76192000-76194200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr6:76192000-76194200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr6:76192000-76197000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:76192000-76197600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr6:76192000-76198000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:76192000-76201400	Weak transcription	GM12878-XiMat	blood
31	chr6:76192200-76193000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr6:76192200-76193800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr6:76192200-76197400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:76192400-76193000	Weak transcription	Right Ventricle	heart
35	chr6:76192400-76197400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:76192600-76197400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:76192800-76194600	Enhancers	Fetal Muscle Leg	muscle
38	chr6:76192800-76195000	Enhancers	Fetal Lung	lung
39	chr6:76192800-76196800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:76193000-76193400	Flanking Active TSS	Fetal Heart	heart
41	chr6:76193000-76193400	Flanking Active TSS	HSMMtube	muscle
42	chr6:76193000-76193800	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr6:76193000-76194000	Enhancers	Right Atrium	heart
44	chr6:76193000-76194400	Enhancers	Left Ventricle	heart
45	chr6:76193000-76194600	Enhancers	Psoas Muscle	Psoas
46	chr6:76193000-76194600	Enhancers	Right Ventricle	heart
47	chr6:76193200-76193600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr6:76193200-76193600	Enhancers	Stomach Smooth Muscle	stomach
49	chr6:76193200-76196000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr6:76193400-76194000	Enhancers	HSMMtube	muscle

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