Variant report

Variant	esv3515262
Chromosome Location	chr13:96919792-96925955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 205 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:205 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139797027	chr13:96919898-96919899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528058927	chr13:96919913-96919914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551381530	chr13:96919942-96919943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534026906	chr13:96919960-96919961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192565845	chr13:96919969-96919970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576929068	chr13:96919983-96919984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539259869	chr13:96919994-96919995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183521517	chr13:96920057-96920058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9556537	chr13:96920062-96920063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs143520801	chr13:96920079-96920080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561644618	chr13:96920105-96920106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373598763	chr13:96920110-96920111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146750516	chr13:96920113-96920114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551198722	chr13:96920155-96920156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564032223	chr13:96920228-96920229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146778586	chr13:96920264-96920265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532715161	chr13:96920272-96920273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552515004	chr13:96920302-96920303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567720313	chr13:96920303-96920304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140368206	chr13:96920309-96920310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531864495	chr13:96920317-96920318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548518297	chr13:96920334-96920335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149928723	chr13:96920336-96920337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533941855	chr13:96920342-96920343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547823537	chr13:96920386-96920387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570878330	chr13:96920407-96920408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9556538	chr13:96920420-96920421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs187442672	chr13:96920436-96920437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576332136	chr13:96920443-96920444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144979207	chr13:96920453-96920454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149165968	chr13:96920478-96920479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192334704	chr13:96920499-96920500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143275380	chr13:96920524-96920525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12871644	chr13:96920541-96920542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557802841	chr13:96920549-96920550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577650798	chr13:96920576-96920577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556372105	chr13:96920598-96920599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562741599	chr13:96920609-96920610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531827485	chr13:96920654-96920655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184133004	chr13:96920713-96920714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562047347	chr13:96920716-96920717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1927795	chr13:96920750-96920751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs558505523	chr13:96920771-96920772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9805419	chr13:96920785-96920786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547488640	chr13:96920800-96920801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575378323	chr13:96920889-96920890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115072016	chr13:96920892-96920893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533244527	chr13:96920906-96920907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74988256	chr13:96920948-96920949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142866526	chr13:96921021-96921022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
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
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
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96918600-96922200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:96921800-96925200	Enhancers	Fetal Intestine Large	intestine
3	chr13:96922200-96922600	Enhancers	Pancreas	Pancrea
4	chr13:96922200-96922800	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr13:96922200-96924800	Enhancers	Fetal Intestine Small	intestine
6	chr13:96922600-96926600	Weak transcription	Pancreas	Pancrea
7	chr13:96922800-96923200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr13:96922800-96924000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr13:96923000-96923400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr13:96923000-96923400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr13:96923000-96923400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr13:96923000-96923400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr13:96923000-96924000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr13:96923200-96923400	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr13:96923400-96924200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr13:96924200-96926800	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr13:96924800-96926600	Weak transcription	Fetal Intestine Small	intestine
18	chr13:96925200-96926400	Weak transcription	Fetal Intestine Large	intestine
19	chr13:96925800-96927800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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