Variant report

Variant	esv3374471
Chromosome Location	chr3:83143311-83168622
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	chr3:83141093..83143297-chr3:83147179..83148923,2	MCF-7	breast:

Extended variants
information (count: 102 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570791413	chr3:83145616-83145617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533177947	chr3:83145617-83145618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs3968316	chr3:83145647-83145648	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs566415086	chr3:83145649-83145650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568833264	chr3:83145697-83145698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555538023	chr3:83145706-83145707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568964650	chr3:83145758-83145759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537909208	chr3:83145790-83145791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544042440	chr3:83163008-83163009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563588628	chr3:83163034-83163035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576922432	chr3:83163051-83163052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139587117	chr3:83163094-83163095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559206499	chr3:83163110-83163111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552283705	chr3:83163159-83163160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559733060	chr3:83163178-83163179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559427029	chr3:83163222-83163223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191096113	chr3:83163226-83163227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117695921	chr3:83163240-83163241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144306578	chr3:83163293-83163294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536809739	chr3:83163304-83163305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542228526	chr3:83163311-83163312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115489803	chr3:83163358-83163359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115748136	chr3:83163385-83163386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539562330	chr3:83163464-83163465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146534150	chr3:83163478-83163479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182161015	chr3:83163507-83163508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563421561	chr3:83163529-83163530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535464563	chr3:83163610-83163611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76118826	chr3:83163667-83163668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555267320	chr3:83163686-83163687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538202885	chr3:83163688-83163689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186701828	chr3:83163689-83163690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77687210	chr3:83163691-83163692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557355557	chr3:83163692-83163693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557576787	chr3:83163713-83163714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75797913	chr3:83163722-83163723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552085593	chr3:83163733-83163734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546308165	chr3:83163737-83163738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116786526	chr3:83163738-83163739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73844737	chr3:83163767-83163768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs71616886	chr3:83163785-83163786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6798199	chr3:83163786-83163787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs546672667	chr3:83163808-83163809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530762265	chr3:83163901-83163902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568184367	chr3:83163925-83163926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145853189	chr3:83163931-83163932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375843243	chr3:83163948-83163949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570659081	chr3:83163973-83163974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532864609	chr3:83163979-83163980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546645503	chr3:83164029-83164030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	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
Esophageal cancer	20955586	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83145600-83145800	Enhancers	Pancreas	Pancrea
2	chr3:83163000-83163200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:83163200-83164200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:83164200-83165400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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