Variant report

Variant	nsv963526
Chromosome Location	chr3:89431253-89438860
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	chr3:89435683..89438107-chr3:89442264..89444057,2	MCF-7	breast:
2	chr3:89425184..89427715-chr3:89431081..89433096,2	MCF-7	breast:

Extended variants
information (count: 362 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544894064	chr3:89431255-89431256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563277744	chr3:89431277-89431278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144507533	chr3:89431278-89431279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376683272	chr3:89431284-89431285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563600654	chr3:89431336-89431337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151025361	chr3:89431364-89431365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369477537	chr3:89431367-89431368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567215417	chr3:89431391-89431392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78332476	chr3:89431408-89431409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115638985	chr3:89431441-89431442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565229317	chr3:89431467-89431468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555489465	chr3:89431483-89431484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1877418	chr3:89431491-89431492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13097834	chr3:89431521-89431522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs558470018	chr3:89431524-89431525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149790344	chr3:89431547-89431548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183513198	chr3:89431551-89431552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145749732	chr3:89431553-89431554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574004755	chr3:89431580-89431581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541511453	chr3:89431605-89431606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116132031	chr3:89431612-89431613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34468928	chr3:89431649-89431650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9825569	chr3:89431650-89431651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575357952	chr3:89431659-89431660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575287487	chr3:89431694-89431695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530728974	chr3:89431701-89431702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78343046	chr3:89431712-89431713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148963643	chr3:89431759-89431760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115120327	chr3:89431765-89431766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546663581	chr3:89431785-89431786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547855911	chr3:89431816-89431817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188025430	chr3:89431864-89431865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566071366	chr3:89431875-89431876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76798447	chr3:89431892-89431893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146980879	chr3:89431896-89431897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114621793	chr3:89432062-89432063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537753797	chr3:89432087-89432088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192823363	chr3:89432093-89432094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34406434	chr3:89432122-89432123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs115379551	chr3:89432156-89432157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114337685	chr3:89432188-89432189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184752028	chr3:89432207-89432208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138158027	chr3:89432228-89432229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375883585	chr3:89432290-89432291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556944219	chr3:89432292-89432293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575399367	chr3:89432335-89432336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116436509	chr3:89432410-89432411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115830186	chr3:89432415-89432416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186798976	chr3:89432416-89432417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540077605	chr3:89432433-89432434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89417800-89433600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:89428200-89435200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:89429200-89434800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:89434600-89435200	Enhancers	Fetal Heart	heart
5	chr3:89434800-89436000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:89435200-89435400	Flanking Active TSS	Fetal Heart	heart
7	chr3:89435200-89435800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:89435400-89435800	Enhancers	Fetal Heart	heart
9	chr3:89435400-89436600	ZNF genes & repeats	Fetal Brain Female	brain
10	chr3:89435800-89436000	Active TSS	Fetal Heart	heart
11	chr3:89435800-89444800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:89436600-89461800	Weak transcription	Fetal Brain Female	brain

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