Variant report

Variant	nsv886463
Chromosome Location	chr6:101922699-101951502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:101950752..101952514-chr6:101954590..101957331,2	K562	blood:
2	chr6:101927489..101928280-chr7:11251597..11252397,2	MCF-7	breast:
3	chr6:101934940..101937511-chr6:101959747..101962607,2	K562	blood:

Extended variants
information (count: 219 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570947732	chr6:101925214-101925215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538558395	chr6:101925329-101925330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369325527	chr6:101925339-101925340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144699343	chr6:101925369-101925370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535454158	chr6:101925406-101925407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377285574	chr6:101925446-101925447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553758361	chr6:101925476-101925477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370817281	chr6:101925483-101925484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545573684	chr6:101925502-101925503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557964745	chr6:101925566-101925567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374914343	chr6:101925578-101925579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185187983	chr6:101925587-101925588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543183273	chr6:101925697-101925698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561661868	chr6:101925707-101925708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529110464	chr6:101925738-101925739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541822611	chr6:101925845-101925846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189693971	chr6:101925874-101925875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74435623	chr6:101925921-101925922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181330071	chr6:101925964-101925965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148496519	chr6:101925971-101925972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78012586	chr6:101926015-101926016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570853727	chr6:101926042-101926043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141905216	chr6:101926074-101926075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185073740	chr6:101926091-101926092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189834076	chr6:101926095-101926096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150632654	chr6:101926097-101926098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181835139	chr6:101926170-101926171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140070395	chr6:101926191-101926192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186134380	chr6:101926193-101926194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143409357	chr6:101926200-101926201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555095955	chr6:101926280-101926281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573644762	chr6:101926288-101926289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146725352	chr6:101926330-101926331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191966820	chr6:101926333-101926334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539702845	chr6:101926338-101926339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572370797	chr6:101926377-101926378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200846177	chr6:101926382-101926383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566395026	chr6:101926383-101926384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs5878666	chr6:101926403-101926404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546144997	chr6:101926425-101926426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369620977	chr6:101926435-101926436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564433411	chr6:101926440-101926441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2852533	chr6:101926451-101926452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs376406386	chr6:101926489-101926490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542090277	chr6:101926534-101926535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183489183	chr6:101926535-101926536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541493553	chr6:101926558-101926559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371276474	chr6:101926559-101926560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550446361	chr6:101926586-101926587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562260218	chr6:101926603-101926604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Endometrioid adenocarcinoma	16974079	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	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
Leukemia	18688285	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
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	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
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	22543975	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101925200-101926000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr6:101926000-101928600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:101928000-101928600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:101933000-101934600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr6:101933200-101934600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:101933400-101934600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:101933400-101934800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:101933800-101934200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:101933800-101934600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr6:101933800-101934600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:101933800-101934600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr6:101934000-101934600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr6:101934000-101935000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:101950600-101951200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr6:101950600-101951200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr6:101950800-101951200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:101951200-101951600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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