Variant report

Variant	nsv604645
Chromosome Location	chr6:128421762-128437136
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:128427870..128430111-chr6:128432750..128435472,2	MCF-7	breast:
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: 551 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4573107	chr6:128421762-128421763	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552084994	chr6:128421819-128421820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376345840	chr6:128421833-128421834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148822574	chr6:128421890-128421891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77020214	chr6:128421900-128421901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71565678	chr6:128421948-128421949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192007140	chr6:128422009-128422010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544205297	chr6:128422013-128422014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562819849	chr6:128422023-128422024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145915827	chr6:128422044-128422045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111244735	chr6:128422127-128422128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560286671	chr6:128422205-128422206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527425872	chr6:128422280-128422281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541410645	chr6:128422354-128422355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571996140	chr6:128422367-128422368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537868536	chr6:128422447-128422448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550173572	chr6:128422450-128422451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138455224	chr6:128422468-128422469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185956111	chr6:128422544-128422545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570622834	chr6:128422549-128422550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553989733	chr6:128422566-128422567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17055283	chr6:128422583-128422584	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574907137	chr6:128422602-128422603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190072819	chr6:128422610-128422611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557706363	chr6:128422611-128422612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576325840	chr6:128422633-128422634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543812581	chr6:128422664-128422665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145095465	chr6:128422668-128422669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182815507	chr6:128422684-128422685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10499137	chr6:128422699-128422700	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs531254669	chr6:128422713-128422714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148329614	chr6:128422780-128422781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527359218	chr6:128422805-128422806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545886985	chr6:128422852-128422853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187505642	chr6:128422939-128422940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531167238	chr6:128422949-128422950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549752481	chr6:128422950-128422951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190741187	chr6:128423008-128423009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141487561	chr6:128423027-128423028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183803843	chr6:128423075-128423076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73584692	chr6:128423111-128423112	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs539664805	chr6:128423120-128423121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557792191	chr6:128423123-128423124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535535602	chr6:128423127-128423128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555534809	chr6:128423193-128423194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188947856	chr6:128423215-128423216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555773914	chr6:128423274-128423275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193101967	chr6:128423281-128423282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542173135	chr6:128423309-128423310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554131719	chr6:128423321-128423322	Weak transcription	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:241 , 50 per page) page: 1 2 3 4 5

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	chr6:128399000-128422600	Weak transcription	HUVEC	blood vessel
5	chr6:128401400-128431800	Weak transcription	Right Ventricle	heart
6	chr6:128401800-128433600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:128404000-128438000	Weak transcription	Fetal Thymus	thymus
8	chr6:128404400-128422000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr6:128405000-128431400	Weak transcription	Primary B cells from cord blood	blood
10	chr6:128406600-128433000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr6:128411000-128433600	Weak transcription	HSMMtube	muscle
12	chr6:128411200-128424600	Weak transcription	Fetal Intestine Small	intestine
13	chr6:128411200-128433800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:128411200-128433800	Weak transcription	Fetal Stomach	stomach
15	chr6:128411200-128433800	Weak transcription	Ovary	ovary
16	chr6:128411600-128445600	Weak transcription	HepG2	liver
17	chr6:128418400-128422400	Weak transcription	Liver	Liver
18	chr6:128419800-128424000	Weak transcription	Pancreas	Pancrea
19	chr6:128419800-128424200	Weak transcription	Left Ventricle	heart
20	chr6:128419800-128424200	Weak transcription	Right Atrium	heart
21	chr6:128419800-128424600	Weak transcription	Gastric	stomach
22	chr6:128419800-128434800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:128419800-128455600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:128421400-128421800	Weak transcription	NHEK	skin
25	chr6:128421400-128431400	Weak transcription	Brain Substantia Nigra	brain
26	chr6:128422400-128422800	Enhancers	Liver	Liver
27	chr6:128422800-128431800	Weak transcription	Liver	Liver
28	chr6:128424000-128424200	Enhancers	Pancreas	Pancrea
29	chr6:128424200-128424400	Enhancers	Right Atrium	heart
30	chr6:128424400-128425000	Weak transcription	Right Atrium	heart
31	chr6:128424400-128425200	Enhancers	Thymus	Thymus
32	chr6:128424600-128424800	ZNF genes & repeats	Fetal Intestine Small	intestine
33	chr6:128424600-128425200	Enhancers	Gastric	stomach
34	chr6:128424800-128432800	Weak transcription	Fetal Intestine Small	intestine
35	chr6:128425000-128425200	Enhancers	Right Atrium	heart
36	chr6:128425000-128452600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr6:128425200-128433600	Weak transcription	Right Atrium	heart
38	chr6:128425200-128435200	Weak transcription	Gastric	stomach
39	chr6:128427600-128428000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:128428000-128452000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:128429200-128430200	Enhancers	Fetal Heart	heart
42	chr6:128430200-128431800	Weak transcription	Fetal Heart	heart
43	chr6:128430600-128430800	Enhancers	Brain Hippocampus Middle	brain
44	chr6:128430800-128432400	Weak transcription	Brain Hippocampus Middle	brain
45	chr6:128430800-128432600	Enhancers	Brain Angular Gyrus	brain
46	chr6:128431000-128432200	Enhancers	Psoas Muscle	Psoas
47	chr6:128431400-128432200	Strong transcription	Primary B cells from cord blood	blood
48	chr6:128431400-128433800	Enhancers	Brain Substantia Nigra	brain
49	chr6:128431600-128431800	Enhancers	Brain Cingulate Gyrus	brain
50	chr6:128431600-128432200	Enhancers	Brain Inferior Temporal Lobe	brain

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