Variant report

Variant	nsv520499
Chromosome Location	chr3:161193325-161195729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:161192914..161194705-chr3:161200640..161203069,2	MCF-7	breast:
2	chr3:161161602..161163726-chr3:161192340..161193989,2	MCF-7	breast:
3	chr16:13221858..13222514-chr3:161192650..161193500,2	MCF-7	breast:
4	chr3:161186330..161188713-chr3:161191015..161194014,3	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16832441	chr3:161193325-161193326	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs151195488	chr3:161193357-161193358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77985237	chr3:161193531-161193532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371026709	chr3:161193712-161193713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544066703	chr3:161193714-161193715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139258853	chr3:161193716-161193717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576229264	chr3:161193719-161193720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529038527	chr3:161193770-161193771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112319283	chr3:161193788-161193789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564228478	chr3:161193790-161193791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574521808	chr3:161193800-161193801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564737779	chr3:161193806-161193807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183949663	chr3:161193853-161193854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144047053	chr3:161193857-161193858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561263732	chr3:161193900-161193901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186563715	chr3:161193948-161193949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs16832443	chr3:161193993-161193994	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs569787252	chr3:161194049-161194050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9854937	chr3:161194059-161194060	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs552501725	chr3:161194080-161194081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561516842	chr3:161194115-161194116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62281471	chr3:161194128-161194129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs398106651	chr3:161194129-161194130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs397964076	chr3:161194145-161194146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373469574	chr3:161194146-161194147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565923483	chr3:161194276-161194277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9835278	chr3:161194277-161194278	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs554951325	chr3:161194285-161194286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146443928	chr3:161194394-161194395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537616735	chr3:161194409-161194410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76898494	chr3:161194410-161194411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535492504	chr3:161194438-161194439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9835582	chr3:161194487-161194488	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs140824479	chr3:161194488-161194489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571926108	chr3:161194489-161194490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189629876	chr3:161194513-161194514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76345731	chr3:161194529-161194530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376401231	chr3:161194544-161194545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111525977	chr3:161194584-161194585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182320989	chr3:161194588-161194589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186982954	chr3:161194590-161194591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552385645	chr3:161194599-161194600	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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	22032731	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
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161192400-161194600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr3:161193400-161194000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:161193400-161194400	Enhancers	Liver	Liver
4	chr3:161193600-161194400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:161193800-161194400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:161193800-161194400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr3:161193800-161194400	Enhancers	Brain Substantia Nigra	brain
8	chr3:161193800-161194400	Enhancers	Hela-S3	cervix

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