Variant report

Variant	esv2760278
Chromosome Location	chr13:96920844-96924615
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 130 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575378323	chr13:96920889-96920890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115072016	chr13:96920892-96920893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533244527	chr13:96920906-96920907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74988256	chr13:96920948-96920949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142866526	chr13:96921021-96921022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1927794	chr13:96921049-96921050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535653098	chr13:96921078-96921079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555651072	chr13:96921083-96921084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371954460	chr13:96921088-96921089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563506167	chr13:96921150-96921151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550988681	chr13:96921176-96921177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565998552	chr13:96921244-96921245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189874716	chr13:96921256-96921257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557449690	chr13:96921267-96921268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141526878	chr13:96921279-96921280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9554332	chr13:96921283-96921284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs1927793	chr13:96921287-96921288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs1927792	chr13:96921313-96921314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs542041025	chr13:96921350-96921351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1927791	chr13:96921420-96921421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs9556540	chr13:96921468-96921469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs541737220	chr13:96921478-96921479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76517824	chr13:96921503-96921504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78885693	chr13:96921512-96921513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530633335	chr13:96921522-96921523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35468816	chr13:96921527-96921528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192136246	chr13:96921545-96921546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570217469	chr13:96921671-96921672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529068201	chr13:96921711-96921712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549186765	chr13:96921721-96921722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565912528	chr13:96921723-96921724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550359325	chr13:96921749-96921750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534611685	chr13:96921750-96921751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558073971	chr13:96921799-96921800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373969521	chr13:96921832-96921833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184551900	chr13:96921914-96921915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60437046	chr13:96921959-96921960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190256744	chr13:96921988-96921989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147121408	chr13:96922021-96922022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75013963	chr13:96922045-96922046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77522735	chr13:96922047-96922048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112298546	chr13:96922077-96922078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138538361	chr13:96922093-96922094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535975266	chr13:96922123-96922124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181832961	chr13:96922124-96922125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115149011	chr13:96922155-96922156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1927790	chr13:96922191-96922192	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs118075018	chr13:96922210-96922211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577909349	chr13:96922294-96922295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186393775	chr13:96922295-96922296	Enhancers	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:16 , 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

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