Variant report

Variant	esv3352995
Chromosome Location	chr13:90393251-90396649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 144 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534650871	chr13:90393264-90393265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553111711	chr13:90393330-90393331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9560425	chr13:90393355-90393356	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs545155657	chr13:90393370-90393371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113358317	chr13:90393372-90393373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146189672	chr13:90393374-90393375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187829371	chr13:90393390-90393391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561126194	chr13:90393397-90393398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9588742	chr13:90393409-90393410	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546593070	chr13:90393439-90393440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564744020	chr13:90393479-90393480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540495721	chr13:90393484-90393485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560133465	chr13:90393485-90393486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532169364	chr13:90393501-90393502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550383862	chr13:90393507-90393508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191098977	chr13:90393513-90393514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531002550	chr13:90393521-90393522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9560426	chr13:90393539-90393540	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs567590430	chr13:90393577-90393578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534998795	chr13:90393600-90393601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138897203	chr13:90393680-90393681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531871811	chr13:90393685-90393686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183361192	chr13:90393702-90393703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79598766	chr13:90393731-90393732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375390803	chr13:90393796-90393797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537845338	chr13:90393813-90393814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569053885	chr13:90393818-90393819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557165565	chr13:90393833-90393834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78889670	chr13:90393850-90393851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575817885	chr13:90393859-90393860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542796627	chr13:90393923-90393924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554827327	chr13:90394011-90394012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573140838	chr13:90394041-90394042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149350830	chr13:90394045-90394046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565214480	chr13:90394047-90394048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187615021	chr13:90394101-90394102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143679362	chr13:90394130-90394131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192240451	chr13:90394136-90394137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529759028	chr13:90394168-90394169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35224524	chr13:90394207-90394208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185204272	chr13:90394229-90394230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9522676	chr13:90394237-90394238	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs574788751	chr13:90394253-90394254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189789055	chr13:90394279-90394280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9522677	chr13:90394358-90394359	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs571948034	chr13:90394386-90394387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375917850	chr13:90394437-90394438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs16943301	chr13:90394439-90394440	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs569346880	chr13:90394443-90394444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534245813	chr13:90394475-90394476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Burkitt''s lymphoma	20823134	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:90387200-90402400	Weak transcription	Hela-S3	cervix
2	chr13:90392200-90394600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:90393200-90394800	Enhancers	Fetal Heart	heart
4	chr13:90393400-90393800	Enhancers	Fetal Muscle Leg	muscle
5	chr13:90393400-90393800	Enhancers	Left Ventricle	heart
6	chr13:90394800-90398600	Weak transcription	Fetal Heart	heart

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