Variant report

Variant	esv3518040
Chromosome Location	chr13:48491634-48496241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 162 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:162 , 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	rs112253507	chr13:48491655-48491656	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545733936	chr13:48491709-48491710	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73487241	chr13:48491713-48491714	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs116079330	chr13:48491756-48491757	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560860255	chr13:48491852-48491853	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs182142029	chr13:48491864-48491865	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs367980871	chr13:48491866-48491867	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs549737727	chr13:48491873-48491874	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs115157175	chr13:48491877-48491878	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs532139979	chr13:48491930-48491931	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs147048193	chr13:48491944-48491945	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs533975122	chr13:48491950-48491951	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs558928901	chr13:48491982-48491983	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs555720567	chr13:48492019-48492020	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs61972227	chr13:48492033-48492034	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs577943805	chr13:48492051-48492052	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs538360546	chr13:48492092-48492093	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs534329873	chr13:48492162-48492163	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs556350182	chr13:48492183-48492184	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs369898405	chr13:48492191-48492192	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs117922310	chr13:48492202-48492203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372110648	chr13:48492229-48492230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554305702	chr13:48492293-48492294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148084213	chr13:48492335-48492336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554552955	chr13:48492336-48492337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187925990	chr13:48492356-48492357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192512957	chr13:48492421-48492422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185453732	chr13:48492432-48492433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560916586	chr13:48492441-48492442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188316117	chr13:48492511-48492512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543518470	chr13:48492525-48492526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141896392	chr13:48492541-48492542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192969011	chr13:48492543-48492544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573117909	chr13:48492579-48492580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9595810	chr13:48492593-48492594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs7321745	chr13:48492617-48492618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs377362575	chr13:48492621-48492622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529919592	chr13:48492634-48492635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201972093	chr13:48492639-48492640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202043039	chr13:48492640-48492641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs60313879	chr13:48492641-48492642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200778113	chr13:48492642-48492643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28874956	chr13:48492661-48492662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs114462880	chr13:48492689-48492690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537812208	chr13:48492701-48492702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550252647	chr13:48492724-48492725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571767522	chr13:48492725-48492726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9595811	chr13:48492743-48492744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs116210289	chr13:48492767-48492768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184874465	chr13:48492787-48492788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Ovarian cancer	22355333	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	21750150	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Phyllodes tumor	17334353	CNVD
Retinoblastoma	22278416	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48477000-48506400	Weak transcription	Psoas Muscle	Psoas
2	chr13:48478800-48491800	Weak transcription	Left Ventricle	heart
3	chr13:48478800-48492200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:48481000-48493000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr13:48482800-48494400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:48486200-48492000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr13:48489400-48492800	Weak transcription	Liver	Liver
8	chr13:48490400-48492200	Enhancers	Dnd41	blood
9	chr13:48490600-48492600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:48491000-48491800	Enhancers	Primary B cells from peripheral blood	blood
11	chr13:48491000-48492200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:48491400-48492000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr13:48491800-48492200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr13:48491800-48492200	ZNF genes & repeats	Left Ventricle	heart
15	chr13:48492000-48492200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
16	chr13:48492000-48492800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr13:48492200-48495400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr13:48492200-48510800	Weak transcription	Left Ventricle	heart
19	chr13:48492800-48493400	Active TSS	Liver	Liver
20	chr13:48493000-48493400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
21	chr13:48493200-48493400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr13:48495200-48506800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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