Variant report

Variant	nsv522343
Chromosome Location	chr3:88341366-88351968
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	chr3:88348034..88350434-chr3:88355298..88358101,2	MCF-7	breast:

Extended variants
information (count: 231 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:231 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10446360	chr3:88341366-88341367	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146318633	chr3:88341453-88341454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535808181	chr3:88341460-88341461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77006869	chr3:88341468-88341469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572329446	chr3:88341474-88341475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148533583	chr3:88341479-88341480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557441136	chr3:88341488-88341489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34429427	chr3:88341501-88341502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184344249	chr3:88341539-88341540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188381468	chr3:88341548-88341549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543566035	chr3:88341550-88341551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372055454	chr3:88341556-88341557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567766220	chr3:88341607-88341608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573544970	chr3:88341667-88341668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75783440	chr3:88341671-88341672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76542219	chr3:88341677-88341678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142892670	chr3:88341713-88341714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545267447	chr3:88341748-88341749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563498340	chr3:88341787-88341788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181322277	chr3:88341817-88341818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377146018	chr3:88341835-88341836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116684626	chr3:88341838-88341839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568378867	chr3:88341839-88341840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529223511	chr3:88341871-88341872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150558638	chr3:88341881-88341882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565991987	chr3:88341913-88341914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539740683	chr3:88341927-88341928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139585420	chr3:88341930-88341931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144489919	chr3:88341940-88341941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536762328	chr3:88341974-88341975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577511612	chr3:88347014-88347015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538506523	chr3:88347044-88347045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190876059	chr3:88347180-88347181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145107681	chr3:88347193-88347194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2219412	chr3:88347211-88347212	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs543285453	chr3:88347300-88347301	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs2199014	chr3:88347310-88347311	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs183377099	chr3:88347316-88347317	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs2199015	chr3:88347361-88347362	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs543813814	chr3:88347372-88347373	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs564105827	chr3:88347454-88347455	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs562197124	chr3:88347465-88347466	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs187308841	chr3:88347490-88347491	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs146859956	chr3:88347500-88347501	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs561881596	chr3:88347501-88347502	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs191933131	chr3:88347522-88347523	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs2199016	chr3:88347562-88347563	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs560277587	chr3:88347584-88347585	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs567011645	chr3:88347628-88347629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527781759	chr3:88347629-88347630	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88339800-88342000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:88341200-88342000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:88347000-88347200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr3:88347200-88347600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr3:88347200-88348000	Enhancers	Primary T cells from cord blood	blood
6	chr3:88347400-88347800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:88347600-88347800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr3:88347800-88348000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr3:88347800-88350000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:88348000-88348600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr3:88348600-88350000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr3:88350000-88351000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr3:88350000-88352000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:88351000-88358600	Weak transcription	Right Atrium	heart

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