Variant report

Variant	esv3351740
Chromosome Location	chr13:90272701-90274899
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544775059	chr13:90272723-90272724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199878365	chr13:90272726-90272727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367875548	chr13:90272768-90272769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116098466	chr13:90272769-90272770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150814085	chr13:90272773-90272774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116392678	chr13:90272779-90272780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556705098	chr13:90272781-90272782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574959687	chr13:90272784-90272785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542509869	chr13:90272785-90272786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560780718	chr13:90272802-90272803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200667937	chr13:90272805-90272806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571083127	chr13:90272826-90272827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139308995	chr13:90272832-90272833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546221293	chr13:90272837-90272838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564370642	chr13:90272853-90272854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531822152	chr13:90272904-90272905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75842178	chr13:90272916-90272917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550036027	chr13:90272958-90272959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184202850	chr13:90272990-90272991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188484385	chr13:90272991-90272992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547249328	chr13:90272992-90272993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565832130	chr13:90273002-90273003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551921943	chr13:90273034-90273035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565643124	chr13:90273037-90273038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539397616	chr13:90273057-90273058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180940187	chr13:90273073-90273074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374146491	chr13:90273106-90273107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs66822890	chr13:90273143-90273144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs569587163	chr13:90273209-90273210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537125732	chr13:90273285-90273286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555188864	chr13:90273294-90273295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35941734	chr13:90273319-90273320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185163593	chr13:90273394-90273395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78216763	chr13:90273396-90273397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191159392	chr13:90273404-90273405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182395851	chr13:90273502-90273503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533994765	chr13:90273537-90273538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572772591	chr13:90273543-90273544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546560356	chr13:90273562-90273563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544960746	chr13:90273621-90273622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146574546	chr13:90273649-90273650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9588697	chr13:90273659-90273660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543864830	chr13:90273664-90273665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549676707	chr13:90273756-90273757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562052031	chr13:90273761-90273762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551964457	chr13:90273855-90273856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140148749	chr13:90273868-90273869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550694423	chr13:90273920-90273921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377090105	chr13:90273921-90273922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565156371	chr13:90273938-90273939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	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
Metanephric adenoma	20802469	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
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
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:90267000-90280200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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