Variant report

Variant	nsv998811
Chromosome Location	chr3:28849038-28875273
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	chr3:28860904..28863719-chr3:28864406..28866091,2	MCF-7	breast:
2	chr3:28860904..28863719-chr3:28864406..28866091,2	MCF-7	breast:

Extended variants
information (count: 452 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568923470	chr3:28849480-28849481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531351659	chr3:28849502-28849503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551333658	chr3:28849572-28849573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569531250	chr3:28849606-28849607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34988623	chr3:28849655-28849656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145239741	chr3:28849663-28849664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149146418	chr3:28849668-28849669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540487737	chr3:28849676-28849677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567072139	chr3:28849706-28849707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536054681	chr3:28849708-28849709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556127434	chr3:28849821-28849822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6775655	chr3:28849823-28849824	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs537983946	chr3:28849832-28849833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142272564	chr3:28849861-28849862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs578081935	chr3:28849877-28849878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540900330	chr3:28849887-28849888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs151337379	chr3:28849924-28849925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185584469	chr3:28849956-28849957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191425599	chr3:28849965-28849966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562966708	chr3:28849968-28849969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183253766	chr3:28849982-28849983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554191294	chr3:28850823-28850824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs137970916	chr3:28850941-28850942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557716497	chr3:28850995-28850996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372795143	chr3:28851027-28851028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191146761	chr3:28851045-28851046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs60769807	chr3:28851096-28851097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9841420	chr3:28851142-28851143	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs34489889	chr3:28851183-28851184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190906521	chr3:28856003-28856004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553595401	chr3:28856004-28856005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573262838	chr3:28856022-28856023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182074736	chr3:28856034-28856035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544348396	chr3:28856078-28856079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1604070	chr3:28856091-28856092	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs187835610	chr3:28856163-28856164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544875360	chr3:28856171-28856172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9830243	chr3:28856181-28856182	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs578260266	chr3:28856218-28856219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74980672	chr3:28856219-28856220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560552543	chr3:28856232-28856233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528967951	chr3:28856243-28856244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548826567	chr3:28856283-28856284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540827069	chr3:28856284-28856285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560452683	chr3:28856302-28856303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192427738	chr3:28856344-28856345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183204791	chr3:28856403-28856404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551002450	chr3:28856420-28856421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571202413	chr3:28856465-28856466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533860911	chr3:28856473-28856474	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16618734	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28849400-28850000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:28850800-28851200	Enhancers	Dnd41	blood
3	chr3:28856000-28856600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:28863600-28877200	Weak transcription	Aorta	Aorta
5	chr3:28865800-28866200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr3:28868200-28868800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:28875000-28875200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:28875200-28875600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:28875200-28877000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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