Variant report

Variant	nsv463167
Chromosome Location	chr6:78277775-78361170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:78329435..78332100-chr6:78332327..78334902,2	MCF-7	breast:
2	chr6:78347135..78348863-chr6:78349405..78351353,2	MCF-7	breast:
3	chr6:78356313..78359113-chr6:78364118..78365918,2	MCF-7	breast:
4	chr6:78347135..78348863-chr6:78349405..78351353,2	MCF-7	breast:
5	chr4:114314248..114314920-chr6:78343402..78344219,2	MCF-7	breast:
6	chr6:78329435..78332100-chr6:78332327..78334902,2	MCF-7	breast:
7	chr6:78357150..78359352-chr6:78388533..78390499,2	K562	blood:

Extended variants
information (count: 990 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:990 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1471182	chr6:78277775-78277776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs111442754	chr6:78277790-78277791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182640560	chr6:78277811-78277812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188007882	chr6:78277841-78277842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367550017	chr6:78277878-78277879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73473162	chr6:78277949-78277950	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs574664080	chr6:78277954-78277955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189635686	chr6:78277995-78277996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554111139	chr6:78278039-78278040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182701661	chr6:78278050-78278051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186975432	chr6:78278079-78278080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538365095	chr6:78278080-78278081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs202095926	chr6:78278084-78278085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34358414	chr6:78278086-78278087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562601382	chr6:78278103-78278104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576130835	chr6:78278107-78278108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568554150	chr6:78278134-78278135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114047946	chr6:78278153-78278154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2798945	chr6:78278175-78278176	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs527970461	chr6:78278270-78278271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547803249	chr6:78278271-78278272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183473641	chr6:78278276-78278277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188858178	chr6:78278336-78278337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552213520	chr6:78278380-78278381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568927984	chr6:78278518-78278519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537978084	chr6:78278541-78278542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77985279	chr6:78278549-78278550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111931012	chr6:78283400-78283401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147442080	chr6:78283405-78283406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561167517	chr6:78283406-78283407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190427190	chr6:78283426-78283427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548191634	chr6:78283460-78283461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2504269	chr6:78283463-78283464	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs560649043	chr6:78283497-78283498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139777807	chr6:78283503-78283504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552353813	chr6:78283504-78283505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111234167	chr6:78283521-78283522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200265117	chr6:78283527-78283528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562837220	chr6:78283534-78283535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77063817	chr6:78283550-78283551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550533878	chr6:78283556-78283557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145271883	chr6:78283558-78283559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536265507	chr6:78283641-78283642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147620937	chr6:78283685-78283686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201678541	chr6:78283704-78283705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148656031	chr6:78283714-78283715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530821449	chr6:78283732-78283733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374099963	chr6:78283766-78283767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538793507	chr6:78283784-78283785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142370732	chr6:78283787-78283788	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
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
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78273800-78277800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:78277800-78278400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:78277800-78278600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:78278000-78278600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:78278200-78278600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr6:78283400-78284400	Enhancers	Fetal Heart	heart
7	chr6:78307200-78317600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:78327400-78327600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:78333800-78335200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:78333800-78335200	Enhancers	Fetal Lung	lung
11	chr6:78336000-78336200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:78343400-78344200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:78343400-78344400	Enhancers	NH-A	brain
14	chr6:78343600-78344400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr6:78343800-78344400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr6:78349400-78350400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:78350400-78353800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:78353600-78354400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr6:78353800-78354400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr6:78353800-78354600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:78353800-78354600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr6:78353800-78355000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:78353800-78355000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr6:78354400-78355600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:78354400-78355600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr6:78354600-78355400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr6:78355000-78362400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:78355400-78356000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr6:78355600-78356000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr6:78355600-78356200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr6:78355800-78356200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr6:78356000-78359400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr6:78356000-78359600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr6:78356200-78359200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr6:78356200-78359800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr6:78358200-78359400	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr6:78358600-78359200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:78358600-78359400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:78358800-78359000	Enhancers	Fetal Intestine Small	intestine
40	chr6:78358800-78359600	Enhancers	Fetal Heart	heart
41	chr6:78358800-78359800	Enhancers	Placenta Amnion	Placenta Amnion
42	chr6:78359000-78359800	Weak transcription	Fetal Intestine Small	intestine
43	chr6:78359200-78359400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr6:78359200-78359400	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr6:78359200-78359400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:78359200-78359400	Enhancers	Fetal Kidney	kidney
47	chr6:78359200-78360200	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr6:78359200-78360200	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr6:78359200-78360400	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr6:78359400-78359600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links