Variant report

Variant	nsv605049
Chromosome Location	chr6:161726980-161727945
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:161713190..161716483-chr6:161724342..161727800,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2145574	chr6:161727014-161727015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2145575	chr6:161727059-161727060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556764852	chr6:161727061-161727062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144089034	chr6:161727102-161727103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9347491	chr6:161727183-161727184	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs561864879	chr6:161727203-161727204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75885191	chr6:161727302-161727303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572079954	chr6:161727344-161727345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77604296	chr6:161727372-161727373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs118148127	chr6:161727383-161727384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561552743	chr6:161727385-161727386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532477203	chr6:161727406-161727407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146494406	chr6:161727408-161727409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9347492	chr6:161727415-161727416	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs531418873	chr6:161727431-161727432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548270345	chr6:161727444-161727445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544019488	chr6:161727548-161727549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141112573	chr6:161727557-161727558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564189005	chr6:161727578-161727579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533721867	chr6:161727715-161727716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11966409	chr6:161727726-161727727	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs9458186	chr6:161727792-161727793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540155268	chr6:161727794-161727795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555983052	chr6:161727796-161727797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556467709	chr6:161727831-161727832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9295146	chr6:161727837-161727838	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs77909096	chr6:161727838-161727839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79005015	chr6:161727841-161727842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62437628	chr6:161727848-161727849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62437629	chr6:161727857-161727858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62437630	chr6:161727859-161727860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535674683	chr6:161727863-161727864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555395206	chr6:161727882-161727883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143207763	chr6:161727885-161727886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11966445	chr6:161727886-161727887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536966976	chr6:161727914-161727915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12191683	chr6:161727924-161727925	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577039644	chr6:161727925-161727926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9295147	chr6:161727937-161727938	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:88)

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
Chordoma	18071362	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
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161722600-161727600	Weak transcription	K562	blood
2	chr6:161722600-161735800	Weak transcription	Right Atrium	heart
3	chr6:161722800-161727000	Weak transcription	Brain Substantia Nigra	brain
4	chr6:161725600-161730200	Weak transcription	HMEC	breast
5	chr6:161726800-161727000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:161726800-161729000	Enhancers	Brain Hippocampus Middle	brain
7	chr6:161727000-161727200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr6:161727000-161727400	Enhancers	Brain Substantia Nigra	brain
9	chr6:161727000-161728400	Enhancers	Brain Cingulate Gyrus	brain
10	chr6:161727400-161728600	Weak transcription	Brain Substantia Nigra	brain
11	chr6:161727600-161728000	Enhancers	K562	blood

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