Variant report

Variant	nsv823829
Chromosome Location	chr6:117458320-117459245
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	chr6:117447258..117449659-chr6:117456353..117459059,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72955425	chr6:117458360-117458361	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373632683	chr6:117458405-117458406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71989643	chr6:117458406-117458407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs151270169	chr6:117458415-117458416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs57477932	chr6:117458437-117458438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538138444	chr6:117458452-117458453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190618363	chr6:117458501-117458502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371008609	chr6:117458522-117458523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560646023	chr6:117458533-117458534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183175037	chr6:117458565-117458566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201868135	chr6:117458567-117458568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200107465	chr6:117458620-117458621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs59909212	chr6:117458621-117458622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567657098	chr6:117458674-117458675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531569313	chr6:117458684-117458685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs514239	chr6:117458737-117458738	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs200167500	chr6:117458765-117458766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544736577	chr6:117458784-117458785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368003354	chr6:117458798-117458799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567640267	chr6:117458901-117458902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375645993	chr6:117458902-117458903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374295126	chr6:117458920-117458921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372402092	chr6:117458950-117458951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537979126	chr6:117458966-117458967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114689373	chr6:117458981-117458982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556712875	chr6:117459046-117459047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536191773	chr6:117459087-117459088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377017320	chr6:117459144-117459145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191145451	chr6:117459166-117459167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575996820	chr6:117459168-117459169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536605388	chr6:117459223-117459224	Enhancers 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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	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
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
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
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Salivary gland tumor	18059337	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Epilepsy	22083797	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117457800-117459200	Enhancers	Left Ventricle	heart
2	chr6:117457800-117461400	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr6:117458000-117459000	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr6:117458200-117460200	Weak transcription	Fetal Muscle Leg	muscle
5	chr6:117458200-117460200	Weak transcription	Psoas Muscle	Psoas
6	chr6:117458400-117459600	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:117459000-117459200	Enhancers	Fetal Heart	heart
8	chr6:117459000-117459600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr6:117459000-117460400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:117459200-117460000	Weak transcription	Fetal Heart	heart
11	chr6:117459200-117463000	Weak transcription	Left Ventricle	heart

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