Variant report

Variant	esv3373917
Chromosome Location	chr13:85208051-85212249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 180 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550077002	chr13:85208053-85208054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11297262	chr13:85208091-85208092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567626967	chr13:85208094-85208095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536568029	chr13:85208110-85208111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556471335	chr13:85208119-85208120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569895442	chr13:85208120-85208121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538444373	chr13:85208142-85208143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558663975	chr13:85208155-85208156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3127542	chr13:85208280-85208281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541078303	chr13:85208323-85208324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554159477	chr13:85208359-85208360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144347314	chr13:85208381-85208382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535729686	chr13:85208386-85208387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3127543	chr13:85208401-85208402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs3099516	chr13:85208427-85208428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs531974335	chr13:85208441-85208442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9602520	chr13:85208449-85208450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs565431470	chr13:85208458-85208459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146573768	chr13:85208462-85208463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547880638	chr13:85208471-85208472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567687683	chr13:85208502-85208503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149140152	chr13:85208507-85208508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201347894	chr13:85208577-85208578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3099517	chr13:85208625-85208626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs182615613	chr13:85208632-85208633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578008170	chr13:85208667-85208668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs3099518	chr13:85208704-85208705	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs538876954	chr13:85208724-85208725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558479557	chr13:85208774-85208775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143212018	chr13:85208782-85208783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556070252	chr13:85208798-85208799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534433069	chr13:85208815-85208816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3099519	chr13:85208832-85208833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs188014671	chr13:85208838-85208839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs3099520	chr13:85208882-85208883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs372657914	chr13:85208896-85208897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547807685	chr13:85208897-85208898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367562869	chr13:85208941-85208942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576667461	chr13:85208953-85208954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545642878	chr13:85208962-85208963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565355687	chr13:85208965-85208966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs3099521	chr13:85209027-85209028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs113619085	chr13:85209107-85209108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567644995	chr13:85209108-85209109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565852871	chr13:85209115-85209116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541567566	chr13:85209126-85209127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561354458	chr13:85209127-85209128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558575638	chr13:85209148-85209149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530161460	chr13:85209155-85209156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148278564	chr13:85209174-85209175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	20502679	CNVD
Non-small cell lung cancer	16651412	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85200200-85211400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:85210000-85210200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:85210200-85210400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:85210200-85210400	Flanking Active TSS	Spleen	Spleen
5	chr13:85210400-85219400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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