Variant report

Variant	nsv519976
Chromosome Location	chr6:161216608-161218651
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2064712	chr6:161216608-161216609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs565649215	chr6:161216610-161216611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73784976	chr6:161216624-161216625	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs557354742	chr6:161216647-161216648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531921697	chr6:161216690-161216691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192426911	chr6:161216694-161216695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551405314	chr6:161216698-161216699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571146806	chr6:161216727-161216728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115882308	chr6:161216743-161216744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182344884	chr6:161216824-161216825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557059895	chr6:161216833-161216834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540134769	chr6:161216839-161216840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76998310	chr6:161216855-161216856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139765737	chr6:161216858-161216859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560933488	chr6:161216962-161216963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73784977	chr6:161216996-161216997	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553658093	chr6:161217046-161217047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150927356	chr6:161217062-161217063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139445338	chr6:161217119-161217120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545687081	chr6:161217130-161217131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531762862	chr6:161217158-161217159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34774509	chr6:161217175-161217176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200644993	chr6:161217212-161217213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs5881372	chr6:161217216-161217217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs397689002	chr6:161217217-161217218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530966875	chr6:161217315-161217316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550687840	chr6:161217394-161217395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73784978	chr6:161217406-161217407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187708320	chr6:161217430-161217431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377292209	chr6:161217441-161217442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565512457	chr6:161217466-161217467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192708667	chr6:161217482-161217483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78090059	chr6:161217494-161217495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571442068	chr6:161217498-161217499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537096901	chr6:161217535-161217536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35509017	chr6:161217544-161217545	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161214000-161216800	Weak transcription	HMEC	breast
2	chr6:161214600-161217200	Enhancers	NHEK	skin
3	chr6:161214600-161217600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:161214800-161217200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:161216400-161216800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:161216400-161217200	Enhancers	Esophagus	oesophagus
7	chr6:161216800-161217200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:161216800-161217200	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links