Variant report

Variant	esv3351638
Chromosome Location	chr13:30223202-30225350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548037662	chr13:30223220-30223221	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs112571454	chr13:30223235-30223236	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs573090689	chr13:30223283-30223284	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs79388224	chr13:30223285-30223286	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs148106910	chr13:30223292-30223293	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs192911647	chr13:30223316-30223317	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs117474991	chr13:30223337-30223338	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs650480	chr13:30223352-30223353	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs73154472	chr13:30223353-30223354	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs569761895	chr13:30223401-30223402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552464736	chr13:30223436-30223437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537100758	chr13:30223469-30223470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140992879	chr13:30223496-30223497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558479649	chr13:30223553-30223554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144947831	chr13:30223576-30223577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138809024	chr13:30223655-30223656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568455377	chr13:30223801-30223802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531070652	chr13:30223872-30223873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74508454	chr13:30223897-30223898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559633725	chr13:30223910-30223911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200220386	chr13:30223920-30223921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375675389	chr13:30223921-30223922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565580744	chr13:30223923-30223924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145528154	chr13:30223932-30223933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs59930632	chr13:30223948-30223949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs55732071	chr13:30223950-30223951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201286166	chr13:30223960-30223961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1275368	chr13:30223988-30223989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528219824	chr13:30224005-30224006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1275367	chr13:30224008-30224009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60086398	chr13:30224031-30224032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555570982	chr13:30224032-30224033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1275366	chr13:30224041-30224042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372055911	chr13:30224065-30224066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9508520	chr13:30224127-30224128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575227883	chr13:30224134-30224135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544316073	chr13:30224135-30224136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541579538	chr13:30224169-30224170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181156367	chr13:30224192-30224193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557295553	chr13:30224199-30224200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185707422	chr13:30224205-30224206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1275365	chr13:30224211-30224212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563309870	chr13:30224213-30224214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368279464	chr13:30224214-30224215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577227358	chr13:30224215-30224216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112354517	chr13:30224254-30224255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546039225	chr13:30224288-30224289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559612998	chr13:30224320-30224321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs386769539	chr13:30224420-30224421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111448350	chr13:30224421-30224422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Squamous cell cancer	20885788	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Malignant glioma	17146433	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Retinoblastoma	22278416	CNVD
Peters Plus syndrome	16909395	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Ovarian cancer	19047089	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30220800-30226800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr13:30222400-30229400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:30222800-30232800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr13:30222800-30232800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr13:30223000-30223400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr13:30223000-30223400	Active TSS	Duodenum Mucosa	Duodenum
7	chr13:30223200-30223400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr13:30224600-30225000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr13:30224600-30225200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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