Variant report

Variant	nsv886462
Chromosome Location	chr6:101916765-101951502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 390 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2788279	chr6:101916765-101916766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144628084	chr6:101916769-101916770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543874428	chr6:101916830-101916831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562456771	chr6:101916909-101916910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371073913	chr6:101916947-101916948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529797438	chr6:101916998-101916999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548256949	chr6:101917006-101917007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189652341	chr6:101917030-101917031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77270758	chr6:101917064-101917065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543496017	chr6:101917067-101917068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552366597	chr6:101917108-101917109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374365057	chr6:101917118-101917119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182022118	chr6:101917139-101917140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187234509	chr6:101917147-101917148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557125052	chr6:101917151-101917152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189543806	chr6:101917154-101917155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536383140	chr6:101917183-101917184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531467439	chr6:101917210-101917211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554619540	chr6:101917212-101917213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572971474	chr6:101917226-101917227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116024340	chr6:101917253-101917254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138508914	chr6:101917272-101917273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562587427	chr6:101917306-101917307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141643279	chr6:101917309-101917310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544885019	chr6:101917310-101917311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562383976	chr6:101917313-101917314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529671934	chr6:101917330-101917331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113599331	chr6:101917347-101917348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2788280	chr6:101917385-101917386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs560304999	chr6:101917469-101917470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181439297	chr6:101917501-101917502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148355188	chr6:101917531-101917532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570660207	chr6:101917536-101917537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531549958	chr6:101917562-101917563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538283901	chr6:101917651-101917652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550035776	chr6:101917660-101917661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186126174	chr6:101917681-101917682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115573688	chr6:101917705-101917706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150872187	chr6:101917751-101917752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139435257	chr6:101917796-101917797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561302065	chr6:101917822-101917823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190203017	chr6:101917844-101917845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558772810	chr6:101917852-101917853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536030787	chr6:101917853-101917854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577357919	chr6:101917867-101917868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116044193	chr6:101917937-101917938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183449337	chr6:101918026-101918027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2399712	chr6:101918057-101918058	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs75109245	chr6:101918099-101918100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147247959	chr6:101918104-101918105	Enhancers 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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101903400-101921000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:101916800-101918400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr6:101918000-101918400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr6:101918000-101918600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr6:101918000-101918600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr6:101918000-101918600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr6:101918000-101918800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr6:101918000-101919200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:101918200-101918600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:101918400-101918800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:101918400-101918800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr6:101921000-101921200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:101925200-101926000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr6:101926000-101928600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr6:101928000-101928600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:101933000-101934600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr6:101933200-101934600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr6:101933400-101934600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr6:101933400-101934800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:101933800-101934200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:101933800-101934600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr6:101933800-101934600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:101933800-101934600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr6:101934000-101934600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:101934000-101935000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr6:101950600-101951200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr6:101950600-101951200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr6:101950800-101951200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:101951200-101951600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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