Variant report

Variant	esv3528037
Chromosome Location	chr13:96019251-96025599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:96010392..96012474-chr13:96022109..96025076,2	K562	blood:

Extended variants
information (count: 292 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9584296	chr13:96019415-96019416	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569541475	chr13:96019436-96019437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538196800	chr13:96019487-96019488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555197971	chr13:96019533-96019534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546843790	chr13:96019546-96019547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533856471	chr13:96019594-96019595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553921814	chr13:96019693-96019694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146295179	chr13:96019706-96019707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576881240	chr13:96019716-96019717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545787926	chr13:96019717-96019718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562603613	chr13:96019738-96019739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139781300	chr13:96019761-96019762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532339623	chr13:96019773-96019774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs3848073	chr13:96019789-96019790	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs144505222	chr13:96019797-96019798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs151090778	chr13:96019801-96019802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546658123	chr13:96019813-96019814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374101987	chr13:96019819-96019820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557029605	chr13:96019835-96019836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560214751	chr13:96019837-96019838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139840440	chr13:96019838-96019839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552532721	chr13:96019839-96019840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190372547	chr13:96019882-96019883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368288351	chr13:96019899-96019900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538508676	chr13:96019902-96019903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372071152	chr13:96019941-96019942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548933502	chr13:96019949-96019950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375183506	chr13:96019953-96019954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192635173	chr13:96019955-96019956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76914380	chr13:96019956-96019957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149909609	chr13:96019986-96019987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375747950	chr13:96020064-96020065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111636468	chr13:96020068-96020069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113788673	chr13:96020093-96020094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75622584	chr13:96020127-96020128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369089428	chr13:96020146-96020147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75881671	chr13:96020156-96020157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111953074	chr13:96020231-96020232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561667457	chr13:96020235-96020236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12868046	chr13:96020245-96020246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12868576	chr13:96020246-96020247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145806365	chr13:96020250-96020251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184253763	chr13:96020257-96020258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111669152	chr13:96020263-96020264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147768510	chr13:96020276-96020277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112190273	chr13:96020281-96020282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369544802	chr13:96020285-96020286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9561859	chr13:96020342-96020343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs549108493	chr13:96020361-96020362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552416698	chr13:96020398-96020399	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
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
Burkitt''s lymphoma	19759907	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Burkitt''s lymphoma	20823134	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96019400-96019800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr13:96019600-96020200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr13:96019600-96020200	Enhancers	NHDF-Ad	bronchial
4	chr13:96019800-96024800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr13:96024000-96032600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:96024800-96025200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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