Variant report

Variant	nsv526663
Chromosome Location	chr6:161746150-161751030
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161746731..161748877-chr6:161750679..161754037,3	K562	blood:
2	chr6:161699768..161702341-chr6:161744966..161747203,2	K562	blood:
3	chr6:161746731..161748877-chr6:161750679..161754037,3	K562	blood:
4	chr6:161746822..161749496-chr6:161751712..161754486,2	K562	blood:

Extended variants
information (count: 139 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1079950	chr6:161746150-161746151	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559897558	chr6:161746152-161746153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528487373	chr6:161746154-161746155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75912986	chr6:161746156-161746157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1079951	chr6:161746170-161746171	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs76190068	chr6:161746213-161746214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79216223	chr6:161746325-161746326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1114008	chr6:161746334-161746335	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs529062894	chr6:161746335-161746336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548657226	chr6:161746371-161746372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533345368	chr6:161746396-161746397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565483825	chr6:161746397-161746398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534296230	chr6:161746400-161746401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377087847	chr6:161746439-161746440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557767966	chr6:161746464-161746465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571168498	chr6:161746465-161746466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs80173305	chr6:161746487-161746488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76890501	chr6:161746513-161746514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74877354	chr6:161746532-161746533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543286141	chr6:161746534-161746535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370216369	chr6:161746551-161746552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77461391	chr6:161746585-161746586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569231872	chr6:161746639-161746640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573403499	chr6:161746645-161746646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12207476	chr6:161746671-161746672	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs565248935	chr6:161746677-161746678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150345400	chr6:161746682-161746683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527247428	chr6:161746733-161746734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182879211	chr6:161746753-161746754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567014409	chr6:161748838-161748839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs180827173	chr6:161748852-161748853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs574170004	chr6:161748860-161748861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs186474877	chr6:161748862-161748863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs544278462	chr6:161748865-161748866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs542803851	chr6:161748927-161748928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs148740537	chr6:161748967-161748968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs529709261	chr6:161748968-161748969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs540259043	chr6:161748977-161748978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs7762147	chr6:161749002-161749003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs532659071	chr6:161749042-161749043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552853398	chr6:161749068-161749069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112015251	chr6:161749133-161749134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531795955	chr6:161749181-161749182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547261275	chr6:161749201-161749202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs36004114	chr6:161749249-161749250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548269733	chr6:161749262-161749263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112332190	chr6:161749265-161749266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568264012	chr6:161749266-161749267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533914214	chr6:161749291-161749292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527598096	chr6:161749367-161749368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Intellectual disability	22102821	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161746000-161746400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:161746000-161746800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:161748800-161749000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:161749000-161751400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:161749200-161762800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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