Variant report

Variant	nsv5471
Chromosome Location	chr6:128419437-128430379
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:128417947..128420463-chr6:128424215..128426639,2	K562	blood:
2	chr6:128417947..128420463-chr6:128424215..128426639,2	K562	blood:
3	chr6:128427870..128430111-chr6:128432750..128435472,2	MCF-7	breast:

Extended variants
information (count: 379 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:379 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532632681	chr6:128419456-128419457	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs551068606	chr6:128419461-128419462	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs562859272	chr6:128419465-128419466	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs144661131	chr6:128419472-128419473	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs548296752	chr6:128419484-128419485	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs184440514	chr6:128419582-128419583	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs148504372	chr6:128419592-128419593	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs546373892	chr6:128419629-128419630	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs571136836	chr6:128419630-128419631	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs538467683	chr6:128419633-128419634	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs556982022	chr6:128419685-128419686	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs568867538	chr6:128419732-128419733	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs144546459	chr6:128419753-128419754	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs147849675	chr6:128419762-128419763	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs530749675	chr6:128419856-128419857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573564877	chr6:128419865-128419866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs202225610	chr6:128419884-128419885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540959145	chr6:128419886-128419887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370502423	chr6:128419915-128419916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559316611	chr6:128419949-128419950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577481159	chr6:128419989-128419990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552208138	chr6:128420029-128420030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78268331	chr6:128420032-128420033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544830400	chr6:128420033-128420034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533699168	chr6:128420072-128420073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112529672	chr6:128420123-128420124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532187926	chr6:128420126-128420127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530182541	chr6:128420153-128420154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188362480	chr6:128420157-128420158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560319670	chr6:128420208-128420209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112861417	chr6:128420227-128420228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs17055281	chr6:128420263-128420264	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs571222419	chr6:128420313-128420314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532133779	chr6:128420337-128420338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561083480	chr6:128420339-128420340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs61051329	chr6:128420341-128420342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547819766	chr6:128420356-128420357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184308057	chr6:128420409-128420410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566450586	chr6:128420434-128420435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533788467	chr6:128420515-128420516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559255690	chr6:128420560-128420561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577617319	chr6:128420567-128420568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566224407	chr6:128420578-128420579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544789279	chr6:128420745-128420746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150963223	chr6:128420774-128420775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574860664	chr6:128420791-128420792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530108086	chr6:128420863-128420864	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548636091	chr6:128420923-128420924	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73772005	chr6:128420951-128420952	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs189131378	chr6:128421000-128421001	Enhancers Weak transcription Genic 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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128289000-128431000	Weak transcription	Psoas Muscle	Psoas
2	chr6:128375000-128433800	Weak transcription	Aorta	Aorta
3	chr6:128379000-128432800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:128390800-128419600	Weak transcription	NH-A	brain
5	chr6:128399000-128422600	Weak transcription	HUVEC	blood vessel
6	chr6:128401400-128431800	Weak transcription	Right Ventricle	heart
7	chr6:128401600-128419600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:128401800-128433600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:128403800-128420800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:128403800-128421600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:128404000-128438000	Weak transcription	Fetal Thymus	thymus
12	chr6:128404400-128422000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:128405000-128431400	Weak transcription	Primary B cells from cord blood	blood
14	chr6:128406600-128433000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr6:128410400-128421200	Weak transcription	NHEK	skin
16	chr6:128411000-128433600	Weak transcription	HSMMtube	muscle
17	chr6:128411200-128419800	Weak transcription	HSMM	muscle
18	chr6:128411200-128420800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:128411200-128424600	Weak transcription	Fetal Intestine Small	intestine
20	chr6:128411200-128433800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:128411200-128433800	Weak transcription	Fetal Stomach	stomach
22	chr6:128411200-128433800	Weak transcription	Ovary	ovary
23	chr6:128411600-128445600	Weak transcription	HepG2	liver
24	chr6:128417400-128420000	Enhancers	Fetal Heart	heart
25	chr6:128418400-128419600	Weak transcription	Brain Hippocampus Middle	brain
26	chr6:128418400-128422400	Weak transcription	Liver	Liver
27	chr6:128419200-128419600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:128419200-128419600	Enhancers	Fetal Brain Female	brain
29	chr6:128419200-128419800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:128419400-128419600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:128419400-128419600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr6:128419400-128419600	Enhancers	Brain Anterior Caudate	brain
33	chr6:128419400-128419600	Active TSS	Brain Cingulate Gyrus	brain
34	chr6:128419400-128419600	Enhancers	Small Intestine	intestine
35	chr6:128419400-128419800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:128419400-128419800	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr6:128419400-128419800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr6:128419400-128419800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:128419400-128419800	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr6:128419400-128419800	Enhancers	Esophagus	oesophagus
41	chr6:128419400-128419800	Enhancers	Gastric	stomach
42	chr6:128419400-128419800	Enhancers	Left Ventricle	heart
43	chr6:128419400-128419800	Enhancers	Pancreas	Pancrea
44	chr6:128419400-128419800	Enhancers	Right Atrium	heart
45	chr6:128419400-128419800	Enhancers	HMEC	breast
46	chr6:128419400-128419800	Enhancers	Osteobl	bone
47	chr6:128419600-128419800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:128419600-128419800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr6:128419600-128419800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr6:128419600-128419800	Flanking Active TSS	Brain Cingulate Gyrus	brain

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