Variant report

Variant	nsv605322
Chromosome Location	chr6:167162863-167163148
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	chr6:167160489..167162374-chr6:167163032..167165986,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550502720	chr6:167162871-167162872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568762626	chr6:167162879-167162880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536106664	chr6:167162894-167162895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547951262	chr6:167162911-167162912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566482794	chr6:167162927-167162928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533904842	chr6:167162928-167162929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558343054	chr6:167162932-167162933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576433236	chr6:167162942-167162943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537408173	chr6:167162981-167162982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556084941	chr6:167162991-167162992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528757451	chr6:167163009-167163010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574368207	chr6:167163013-167163014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541692975	chr6:167163015-167163016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547024463	chr6:167163022-167163023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562013270	chr6:167163023-167163024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560310395	chr6:167163029-167163030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572116441	chr6:167163032-167163033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189963601	chr6:167163033-167163034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371639162	chr6:167163038-167163039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564529301	chr6:167163040-167163041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531782720	chr6:167163041-167163042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376691618	chr6:167163044-167163045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181231167	chr6:167163045-167163046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529578429	chr6:167163047-167163048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529300618	chr6:167163053-167163054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551093538	chr6:167163054-167163055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184655447	chr6:167163055-167163056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569237106	chr6:167163060-167163061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537278699	chr6:167163061-167163062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188286556	chr6:167163070-167163071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539601430	chr6:167163071-167163072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552052759	chr6:167163077-167163078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113966979	chr6:167163081-167163082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551866127	chr6:167163086-167163087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570208521	chr6:167163088-167163089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181932227	chr6:167163092-167163093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78566132	chr6:167163093-167163094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574059569	chr6:167163095-167163096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534560139	chr6:167163102-167163103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190702952	chr6:167163103-167163104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181675673	chr6:167163111-167163112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs56855657	chr6:167163118-167163119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs58652166	chr6:167163121-167163122	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs545667849	chr6:167163125-167163126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182959919	chr6:167163142-167163143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Autism	22549408	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167157600-167163600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:167157600-167164200	Weak transcription	Fetal Kidney	kidney
3	chr6:167157800-167163200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:167157800-167163800	Weak transcription	Brain Anterior Caudate	brain
5	chr6:167157800-167163800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:167157800-167164200	Weak transcription	HSMM	muscle
7	chr6:167158200-167163000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:167160000-167164600	Weak transcription	HSMMtube	muscle
9	chr6:167161600-167163200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:167161600-167163400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:167161600-167164600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:167161800-167163200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:167161800-167163200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:167161800-167163400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr6:167161800-167163400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:167161800-167163400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:167161800-167163400	Weak transcription	NH-A	brain
18	chr6:167161800-167163600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr6:167161800-167164000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr6:167162000-167163000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:167162000-167163200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr6:167162000-167163200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:167162000-167163200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:167162000-167163200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:167162000-167163200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr6:167162000-167163200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:167162000-167163200	Weak transcription	Fetal Thymus	thymus
28	chr6:167162000-167163600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:167162000-167163600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr6:167162000-167163800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr6:167162000-167163800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:167162000-167164000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr6:167162000-167164400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr6:167162200-167163000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:167163000-167163200	Weak transcription	Primary B cells from cord blood	blood
36	chr6:167163000-167164800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:167163000-167165200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:167163000-167165600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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