Variant report

Variant	esv33430
Chromosome Location	chr3:22280610-22286192
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	chr3:22282412..22284259-chr3:22284738..22287975,3	MCF-7	breast:
2	chr3:22282412..22284259-chr3:22284738..22287975,3	MCF-7	breast:

Extended variants
information (count: 103 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557971954	chr3:22280617-22280618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575258347	chr3:22280620-22280621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190802625	chr3:22280629-22280630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574961970	chr3:22280630-22280631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377420411	chr3:22280674-22280675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79433901	chr3:22280683-22280684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540806706	chr3:22280735-22280736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183661254	chr3:22280763-22280764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2728951	chr3:22280773-22280774	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs145696384	chr3:22280776-22280777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34537670	chr3:22280785-22280786	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs545042316	chr3:22280789-22280790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534715521	chr3:22284601-22284602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189887955	chr3:22284616-22284617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563336613	chr3:22284657-22284658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542054937	chr3:22284660-22284661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375087903	chr3:22284673-22284674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557574442	chr3:22284674-22284675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7621205	chr3:22284699-22284700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546447181	chr3:22284735-22284736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112040875	chr3:22284739-22284740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182040826	chr3:22284757-22284758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532465236	chr3:22284763-22284764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561760270	chr3:22284797-22284798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529023786	chr3:22284862-22284863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550412137	chr3:22284886-22284887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35647793	chr3:22284893-22284894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568988820	chr3:22284935-22284936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187040914	chr3:22284965-22284966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145795403	chr3:22284969-22284970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75311328	chr3:22284975-22284976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192840995	chr3:22284999-22285000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148989893	chr3:22285022-22285023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535904413	chr3:22285024-22285025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143805730	chr3:22285069-22285070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148179297	chr3:22285087-22285088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554103651	chr3:22285088-22285089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576998706	chr3:22285089-22285090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574807869	chr3:22285135-22285136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141517740	chr3:22285141-22285142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185252309	chr3:22285158-22285159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188765205	chr3:22285174-22285175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145197191	chr3:22285208-22285209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540221960	chr3:22285210-22285211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs137883409	chr3:22285227-22285228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528882981	chr3:22285233-22285234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150540833	chr3:22285250-22285251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561862403	chr3:22285286-22285287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576284714	chr3:22285288-22285289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192871652	chr3:22285305-22285306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
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
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
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22280400-22280800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr3:22280600-22280800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:22284600-22286200	Weak transcription	NHDF-Ad	bronchial
4	chr3:22285600-22287400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:22286000-22287600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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