Variant report

Variant	nsv521665
Chromosome Location	chr6:133627248-133628237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2027210	chr6:133627248-133627249	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs62430317	chr6:133627269-133627270	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181339372	chr6:133627287-133627288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550370680	chr6:133627292-133627293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567076171	chr6:133627315-133627316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374894666	chr6:133627322-133627323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533897971	chr6:133627334-133627335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547113483	chr6:133627335-133627336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566839347	chr6:133627360-133627361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186479094	chr6:133627361-133627362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556172423	chr6:133627390-133627391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62430318	chr6:133627399-133627400	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs567398285	chr6:133627473-133627474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537682590	chr6:133627573-133627574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74382814	chr6:133627616-133627617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17062316	chr6:133627629-133627630	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs189399542	chr6:133627733-133627734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575131424	chr6:133627738-133627739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376966633	chr6:133627798-133627799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201086572	chr6:133627859-133627860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555063716	chr6:133627862-133627863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571772304	chr6:133627970-133627971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540818510	chr6:133628019-133628020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35244487	chr6:133628024-133628025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553065496	chr6:133628029-133628030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145904058	chr6:133628086-133628087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540632854	chr6:133628090-133628091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545010236	chr6:133628095-133628096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564685610	chr6:133628151-133628152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536053538	chr6:133628190-133628191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374241346	chr6:133628207-133628208	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs199759409	chr6:133628226-133628227	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17062322	chr6:133628237-133628238	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

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
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Invasive pancreatic ductal carcinoma	16982739	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
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133599000-133629000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:133613000-133630600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:133613000-133655000	Weak transcription	Hela-S3	cervix
4	chr6:133623200-133636200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:133626200-133627400	Enhancers	Psoas Muscle	Psoas
6	chr6:133627000-133627400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr6:133627000-133633200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:133627200-133628200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:133627400-133627600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr6:133627400-133628400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:133627400-133633200	Weak transcription	Psoas Muscle	Psoas
12	chr6:133627600-133637000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:133628000-133629000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:133628200-133628400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:133628200-133628800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:133628200-133629800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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