Variant report

Variant	nsv970349
Chromosome Location	chr6:128494061-128498398
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 153 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17829369	chr6:128494093-128494094	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs193060440	chr6:128494141-128494142	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570910344	chr6:128494180-128494181	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538350677	chr6:128494225-128494226	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs35811045	chr6:128494236-128494237	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs370433852	chr6:128494250-128494251	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs568496938	chr6:128494290-128494291	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs536141386	chr6:128494292-128494293	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs190451988	chr6:128494303-128494304	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs573077702	chr6:128494319-128494320	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs533944285	chr6:128494380-128494381	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs543548490	chr6:128494423-128494424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145851615	chr6:128494500-128494501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76128174	chr6:128494504-128494505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145485956	chr6:128494548-128494549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117122857	chr6:128494581-128494582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs180681954	chr6:128494617-128494618	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs541473124	chr6:128494657-128494658	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs375540855	chr6:128494673-128494674	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs148822213	chr6:128494678-128494679	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs111995268	chr6:128494750-128494751	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs527979494	chr6:128494759-128494760	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs372040635	chr6:128494797-128494798	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs548106111	chr6:128494834-128494835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4628122	chr6:128494860-128494861	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs531838811	chr6:128494861-128494862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143823758	chr6:128494872-128494873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374227402	chr6:128494894-128494895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568586031	chr6:128494906-128494907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79286337	chr6:128494918-128494919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs17055412	chr6:128494919-128494920	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs566721476	chr6:128494954-128494955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200482971	chr6:128494983-128494984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533885338	chr6:128495061-128495062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558330059	chr6:128495069-128495070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34612271	chr6:128495093-128495094	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs551092495	chr6:128495095-128495096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537529643	chr6:128495099-128495100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377485212	chr6:128495144-128495145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148154519	chr6:128495200-128495201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183830131	chr6:128495253-128495254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs202197610	chr6:128495266-128495267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111866719	chr6:128495319-128495320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188636274	chr6:128495357-128495358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572690210	chr6:128495434-128495435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145091445	chr6:128495436-128495437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570503718	chr6:128495457-128495458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374819404	chr6:128495474-128495475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372098490	chr6:128495513-128495514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556324724	chr6:128495514-128495515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	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
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Neurocytoma	17123091	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21958427	CNVD
Mental retardation	17847001	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21390271	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128452600-128505200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:128461400-128504400	Weak transcription	Fetal Intestine Large	intestine
3	chr6:128465600-128504400	Weak transcription	Fetal Thymus	thymus
4	chr6:128465600-128523200	Weak transcription	Left Ventricle	heart
5	chr6:128469400-128496200	Weak transcription	HepG2	liver
6	chr6:128472400-128494200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:128477800-128504200	Weak transcription	HSMM	muscle
8	chr6:128487200-128494200	Weak transcription	Brain Hippocampus Middle	brain
9	chr6:128488200-128508000	Weak transcription	Aorta	Aorta
10	chr6:128488200-128565200	Weak transcription	Fetal Stomach	stomach
11	chr6:128489000-128507800	Weak transcription	NHLF	lung
12	chr6:128489600-128505200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:128489800-128504600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:128489800-128514200	Weak transcription	Gastric	stomach
15	chr6:128490000-128496000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:128490000-128498600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:128490000-128511600	Weak transcription	Pancreas	Pancrea
18	chr6:128490000-128520200	Weak transcription	Fetal Intestine Small	intestine
19	chr6:128492400-128496400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr6:128492600-128504800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr6:128492600-128567800	Weak transcription	Ovary	ovary
22	chr6:128492800-128494800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr6:128492800-128501400	Weak transcription	Primary B cells from cord blood	blood
24	chr6:128493400-128494400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:128493400-128495000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:128493800-128494200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:128494000-128494200	Enhancers	Brain Cingulate Gyrus	brain
28	chr6:128494000-128494200	Enhancers	Fetal Heart	heart
29	chr6:128494000-128494200	Enhancers	Psoas Muscle	Psoas
30	chr6:128494000-128494200	Enhancers	Right Atrium	heart
31	chr6:128494000-128494200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr6:128494000-128494400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:128494000-128494400	Genic enhancers	NH-A	brain
34	chr6:128494000-128495000	Enhancers	HMEC	breast
35	chr6:128494000-128495200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:128494000-128495600	Enhancers	NHEK	skin
37	chr6:128494200-128494400	Flanking Active TSS	Fetal Heart	heart
38	chr6:128494200-128494800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:128494200-128494800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr6:128494200-128495000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:128494200-128495000	Enhancers	HSMMtube	muscle
42	chr6:128494200-128495600	Enhancers	Brain Hippocampus Middle	brain
43	chr6:128494400-128494600	Enhancers	Fetal Heart	heart
44	chr6:128494400-128495000	Enhancers	NH-A	brain
45	chr6:128494400-128495000	Enhancers	Osteobl	bone
46	chr6:128494400-128496200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:128494400-128498600	Weak transcription	Psoas Muscle	Psoas
48	chr6:128494400-128526000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:128494600-128494800	Flanking Active TSS	Fetal Heart	heart
50	chr6:128494800-128495000	Enhancers	Brain Cingulate Gyrus	brain

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