Variant report

Variant	nsv527704
Chromosome Location	chr3:89534377-89543677
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	chr11:109618581..109619323-chr3:89534199..89534756,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7632427	chr3:89534377-89534378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs536339296	chr3:89534388-89534389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201542677	chr3:89534390-89534391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559230211	chr3:89534414-89534415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571994865	chr3:89534430-89534431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529889765	chr3:89534461-89534462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548032939	chr3:89534463-89534464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539080172	chr3:89534491-89534492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138982795	chr3:89534501-89534502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577127739	chr3:89534504-89534505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544543098	chr3:89534522-89534523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562737920	chr3:89534563-89534564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72923638	chr3:89534579-89534580	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs73144998	chr3:89534592-89534593	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs575231105	chr3:89538200-89538201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143116298	chr3:89538225-89538226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551091232	chr3:89538344-89538345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567770803	chr3:89538355-89538356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534675301	chr3:89538360-89538361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11706497	chr3:89538366-89538367	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs370124998	chr3:89538384-89538385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146678567	chr3:89538385-89538386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564252304	chr3:89538407-89538408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs367861954	chr3:89538419-89538420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76735850	chr3:89538436-89538437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184114569	chr3:89538458-89538459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs972030	chr3:89538498-89538499	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs554337006	chr3:89538541-89538542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572907214	chr3:89538544-89538545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140281642	chr3:89538547-89538548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564873240	chr3:89538553-89538554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532188005	chr3:89538558-89538559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560716932	chr3:89538591-89538592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114072919	chr3:89538649-89538650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574407286	chr3:89538682-89538683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73146907	chr3:89538747-89538748	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs530986036	chr3:89538759-89538760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550947416	chr3:89543024-89543025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs367653474	chr3:89543031-89543032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569663547	chr3:89543035-89543036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548873567	chr3:89543066-89543067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs62275028	chr3:89543067-89543068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190564009	chr3:89543071-89543072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376823256	chr3:89543085-89543086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35819496	chr3:89543094-89543095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116353112	chr3:89543117-89543118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534035134	chr3:89543134-89543135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148689687	chr3:89543160-89543161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554279294	chr3:89543186-89543187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572588010	chr3:89543188-89543189	Enhancers	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89532000-89534400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr3:89534400-89534600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr3:89538200-89538600	Enhancers	Adipose Nuclei	Adipose
4	chr3:89538200-89538800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:89538400-89538800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:89543000-89543800	Enhancers	Fetal Lung	lung

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