Variant report

Variant	nsv437520
Chromosome Location	chr6:101935190-101953555
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	chr6:101950752..101952514-chr6:101954590..101957331,2	K562	blood:
2	chr6:101934940..101937511-chr6:101959747..101962607,2	K562	blood:

Extended variants
information (count: 114 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555524986	chr6:101950610-101950611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76960677	chr6:101950611-101950612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554670113	chr6:101950650-101950651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35386200	chr6:101950690-101950691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142135238	chr6:101950694-101950695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373392118	chr6:101950704-101950705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540375256	chr6:101950716-101950717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150136115	chr6:101950747-101950748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577059413	chr6:101950819-101950820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541286694	chr6:101950841-101950842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138663034	chr6:101950846-101950847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563679517	chr6:101950853-101950854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530788787	chr6:101950861-101950862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542729707	chr6:101950871-101950872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148902154	chr6:101950884-101950885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528666881	chr6:101950939-101950940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143466677	chr6:101950970-101950971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs137859689	chr6:101950971-101950972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532818394	chr6:101950975-101950976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550962994	chr6:101951055-101951056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568885119	chr6:101951086-101951087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190322754	chr6:101951152-101951153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182496274	chr6:101951190-101951191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548290693	chr6:101951193-101951194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533788827	chr6:101951202-101951203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558702264	chr6:101951203-101951204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367815113	chr6:101951205-101951206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74828688	chr6:101951246-101951247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186740526	chr6:101951299-101951300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs80350887	chr6:101951336-101951337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192041245	chr6:101951362-101951363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575248916	chr6:101951403-101951404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373796043	chr6:101951432-101951433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376680371	chr6:101951441-101951442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561096124	chr6:101951486-101951487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2224201	chr6:101951502-101951503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs528322080	chr6:101951507-101951508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540496176	chr6:101951600-101951601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34764416	chr6:101951634-101951635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541078023	chr6:101951690-101951691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563316993	chr6:101951720-101951721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565494648	chr6:101951725-101951726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532560754	chr6:101951735-101951736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529190364	chr6:101951755-101951756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145960223	chr6:101951768-101951769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549328142	chr6:101951771-101951772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs72957121	chr6:101951786-101951787	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs78470034	chr6:101951793-101951794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548198975	chr6:101951881-101951882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566606815	chr6:101951890-101951891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101950600-101951200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr6:101950600-101951200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr6:101950800-101951200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:101951200-101951600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:101951600-101951800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:101951800-101965000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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