Variant report

Variant	nsv527571
Chromosome Location	chr6:146620665-146633818
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:146054188..146056153-chr6:146627133..146629580,2	K562	blood:
2	chr6:146629780..146632206-chr6:146634250..146636588,2	K562	blood:
3	chr6:146633075..146636234-chr6:146637797..146640272,3	K562	blood:
4	chr6:146633075..146635160-chr6:146637797..146639994,2	K562	blood:

Extended variants
information (count: 315 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1555084	chr6:146620665-146620666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533714285	chr6:146620779-146620780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146618472	chr6:146620812-146620813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565715914	chr6:146620847-146620848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73577169	chr6:146620848-146620849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs141276645	chr6:146620878-146620879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548596962	chr6:146620895-146620896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143697526	chr6:146620974-146620975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567766508	chr6:146620978-146620979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563381647	chr6:146620983-146620984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573694159	chr6:146620996-146620997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557082425	chr6:146621003-146621004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190577682	chr6:146621036-146621037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539751236	chr6:146621037-146621038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200941350	chr6:146621044-146621045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145694518	chr6:146621114-146621115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573318304	chr6:146621153-146621154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542205621	chr6:146621209-146621210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182362988	chr6:146621226-146621227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9403772	chr6:146621257-146621258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372318278	chr6:146621319-146621320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185307405	chr6:146621384-146621385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542583237	chr6:146621394-146621395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374779694	chr6:146621414-146621415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537405468	chr6:146621430-146621431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143675327	chr6:146621524-146621525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560371601	chr6:146621557-146621558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557501849	chr6:146621607-146621608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148054917	chr6:146621636-146621637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73785342	chr6:146621655-146621656	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs368507946	chr6:146621712-146621713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567827976	chr6:146621725-146621726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530667649	chr6:146621767-146621768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550383850	chr6:146621816-146621817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530631847	chr6:146621854-146621855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570675561	chr6:146621935-146621936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538885611	chr6:146621966-146621967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539249692	chr6:146622013-146622014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535767028	chr6:146622021-146622022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188856384	chr6:146622142-146622143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142314991	chr6:146622143-146622144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145938012	chr6:146622193-146622194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575686069	chr6:146622195-146622196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181417063	chr6:146622210-146622211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372889276	chr6:146622214-146622215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559580624	chr6:146622220-146622221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557961703	chr6:146622225-146622226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs578130420	chr6:146622260-146622261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572047990	chr6:146622282-146622283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138839896	chr6:146622304-146622305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Autism	22495311	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
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
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
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cerebellar ataxia	22138850	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146619200-146621800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:146619600-146621600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:146619600-146622400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:146621600-146622600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr6:146621800-146622000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:146621800-146622000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:146622000-146623000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:146622000-146624200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:146622400-146622600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:146622400-146623200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:146622400-146625600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:146622600-146623800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:146622600-146624600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:146623000-146623200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:146623000-146623600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:146623200-146624600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:146623200-146626000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:146623600-146624000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:146623800-146624600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr6:146624000-146624400	Enhancers	Brain Cingulate Gyrus	brain
21	chr6:146624000-146626800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:146624200-146624600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:146624600-146624800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:146624600-146625000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr6:146624600-146625600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:146624600-146627800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr6:146625400-146626000	Enhancers	NHDF-Ad	bronchial
28	chr6:146625600-146626400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:146625600-146626800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:146625800-146626800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr6:146625800-146627400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr6:146626000-146626600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:146626000-146627200	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr6:146626200-146626400	Enhancers	Brain Cingulate Gyrus	brain
35	chr6:146626200-146626600	Enhancers	HUVEC	blood vessel
36	chr6:146626400-146626600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:146626800-146629000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:146627800-146629600	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr6:146629000-146629400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:146633600-146634400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr6:146633600-146635000	Enhancers	HSMM	muscle
42	chr6:146633800-146634200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr6:146633800-146634600	Enhancers	HSMMtube	muscle

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