Variant report

Variant	nsv481933
Chromosome Location	chr6:162127177-162142094
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	chr6:162111336..162114011-chr6:162137192..162139483,2	K562	blood:
2	chr6:162135808..162138276-chr6:162142475..162145172,2	K562	blood:

Extended variants
information (count: 616 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:616 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550994938	chr6:162127202-162127203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114603928	chr6:162127205-162127206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535788222	chr6:162127235-162127236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555370190	chr6:162127270-162127271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186817701	chr6:162127282-162127283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556965070	chr6:162127320-162127321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534501816	chr6:162127348-162127349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372445139	chr6:162127351-162127352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs137857748	chr6:162127362-162127363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1033575	chr6:162127421-162127422	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs556548586	chr6:162127432-162127433	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573295118	chr6:162127435-162127436	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7770757	chr6:162127442-162127443	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190531670	chr6:162127454-162127455	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111692929	chr6:162127477-162127478	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17596816	chr6:162127514-162127515	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs182959851	chr6:162127541-162127542	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145981242	chr6:162127546-162127547	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374841153	chr6:162127556-162127557	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188038098	chr6:162127564-162127565	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35115923	chr6:162127570-162127571	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs567710235	chr6:162127571-162127572	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564843583	chr6:162127628-162127629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35739265	chr6:162127629-162127630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397730234	chr6:162127637-162127638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148215743	chr6:162127639-162127640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111275142	chr6:162127641-162127642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549292760	chr6:162127658-162127659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565850611	chr6:162127670-162127671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116940820	chr6:162127685-162127686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192496075	chr6:162127692-162127693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375801651	chr6:162127697-162127698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141535567	chr6:162127734-162127735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150869855	chr6:162127735-162127736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4292503	chr6:162127819-162127820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs573069999	chr6:162127836-162127837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542245448	chr6:162127870-162127871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552901763	chr6:162127885-162127886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573459430	chr6:162127944-162127945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545640503	chr6:162127955-162127956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75268220	chr6:162127965-162127966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116865032	chr6:162127987-162127988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544744935	chr6:162128007-162128008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182771204	chr6:162128014-162128015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13220282	chr6:162128087-162128088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs10484812	chr6:162128094-162128095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs35626845	chr6:162128126-162128127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs35273090	chr6:162128136-162128137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs551252562	chr6:162128147-162128148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571159938	chr6:162128164-162128165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162119600-162135600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:162125600-162127400	Weak transcription	Aorta	Aorta
3	chr6:162126800-162127200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr6:162126800-162127400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:162126800-162127400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:162127000-162127600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:162127400-162127600	ZNF genes & repeats	Aorta	Aorta
8	chr6:162137000-162137400	Enhancers	Fetal Brain Male	brain
9	chr6:162137000-162138000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr6:162137200-162138000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:162137600-162138000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:162137800-162138400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:162138000-162143000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr6:162138000-162148200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:162138400-162139800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:162139800-162141000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:162141000-162141400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:162141400-162141600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:162141600-162148000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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