Variant report

Variant	esv9269
Chromosome Location	chr3:196172633-196175641
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:195980112..195980674-chr3:196172002..196172990,2	K562	blood:
2	chr3:196169492..196171100-chr3:196172637..196174414,2	K562	blood:
3	chr3:195980475..195981134-chr3:196172324..196172888,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXO45-6	chr3:196172625-196173629	NONHSAT094338

Extended variants
information (count: 127 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546867507	chr3:196172650-196172651	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs112936474	chr3:196172686-196172687	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs372008215	chr3:196172689-196172690	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs532619595	chr3:196172690-196172691	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs112056245	chr3:196172724-196172725	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs551022028	chr3:196172737-196172738	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs569021193	chr3:196172742-196172743	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs141911112	chr3:196172746-196172747	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs554590857	chr3:196172751-196172752	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs567215919	chr3:196172758-196172759	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs539168156	chr3:196172790-196172791	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs552870060	chr3:196172791-196172792	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs534625973	chr3:196172847-196172848	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs115191658	chr3:196172850-196172851	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs185937626	chr3:196172861-196172862	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs557053695	chr3:196172870-196172871	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs566914453	chr3:196172878-196172879	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs369066576	chr3:196172924-196172925	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs371317829	chr3:196172946-196172947	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs542638969	chr3:196172986-196172987	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs559071154	chr3:196172995-196172996	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs538497110	chr3:196173048-196173049	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs188839425	chr3:196173075-196173076	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs534034438	chr3:196173084-196173085	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs181892869	chr3:196173087-196173088	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs573737100	chr3:196173122-196173123	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs376987419	chr3:196173146-196173147	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs146301421	chr3:196173177-196173178	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs139560430	chr3:196173178-196173179	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs375512448	chr3:196173180-196173181	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs550899880	chr3:196173187-196173188	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs562639689	chr3:196173198-196173199	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs143465818	chr3:196173199-196173200	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs150804948	chr3:196173200-196173201	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs187225652	chr3:196173210-196173211	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs533960559	chr3:196173247-196173248	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs546838539	chr3:196173341-196173342	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs200833511	chr3:196173364-196173365	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs118139924	chr3:196173370-196173371	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs543664543	chr3:196173371-196173372	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs190945276	chr3:196173373-196173374	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs556466532	chr3:196173379-196173380	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs182844264	chr3:196173411-196173412	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs575400123	chr3:196173419-196173420	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs536384931	chr3:196173420-196173421	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs373900130	chr3:196173442-196173443	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs117020713	chr3:196173456-196173457	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs200026361	chr3:196173530-196173531	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs7653573	chr3:196173593-196173594	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs7640280	chr3:196173627-196173628	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196168200-196184400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:196168400-196194200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:196170800-196196000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr3:196171000-196198400	Weak transcription	Fetal Brain Female	brain
5	chr3:196171400-196174000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:196171400-196198600	Weak transcription	Ovary	ovary
7	chr3:196171600-196191000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:196171800-196181600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:196171800-196197600	Weak transcription	Brain Anterior Caudate	brain
10	chr3:196171800-196198200	Weak transcription	NHDF-Ad	bronchial
11	chr3:196172200-196184600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:196172200-196184600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:196172200-196198200	Weak transcription	Aorta	Aorta
14	chr3:196172400-196181000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr3:196173000-196198600	Weak transcription	Colon Smooth Muscle	Colon
16	chr3:196173200-196198200	Weak transcription	Brain Angular Gyrus	brain
17	chr3:196174000-196174400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:196174000-196174800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:196174200-196174800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:196174200-196175200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:196174800-196195200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:196174800-196198200	Weak transcription	Right Ventricle	heart
23	chr3:196175200-196187000	Weak transcription	Lung	lung
24	chr3:196175200-196198200	Weak transcription	Brain Hippocampus Middle	brain
25	chr3:196175200-196198400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr3:196175600-196181600	Weak transcription	Primary T cells from cord blood	blood

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