Variant report

Variant	esv3519408
Chromosome Location	chr13:96020089-96024688
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: 216 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:216 , 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	rs113788673	chr13:96020093-96020094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75622584	chr13:96020127-96020128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369089428	chr13:96020146-96020147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75881671	chr13:96020156-96020157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111953074	chr13:96020231-96020232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561667457	chr13:96020235-96020236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12868046	chr13:96020245-96020246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12868576	chr13:96020246-96020247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145806365	chr13:96020250-96020251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184253763	chr13:96020257-96020258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111669152	chr13:96020263-96020264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147768510	chr13:96020276-96020277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112190273	chr13:96020281-96020282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369544802	chr13:96020285-96020286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9561859	chr13:96020342-96020343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs549108493	chr13:96020361-96020362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552416698	chr13:96020398-96020399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562884843	chr13:96020400-96020401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531623759	chr13:96020415-96020416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548872702	chr13:96020416-96020417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568772827	chr13:96020429-96020430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534351397	chr13:96020449-96020450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548003844	chr13:96020464-96020465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553273617	chr13:96020493-96020494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9561860	chr13:96020517-96020518	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs539500148	chr13:96020518-96020519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9561861	chr13:96020522-96020523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs569602627	chr13:96020571-96020572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373468478	chr13:96020630-96020631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12100254	chr13:96020638-96020639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs180905330	chr13:96020659-96020660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373175777	chr13:96020668-96020669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs67064753	chr13:96020691-96020692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202090084	chr13:96020692-96020693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186286650	chr13:96020715-96020716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56271216	chr13:96020737-96020738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs33995019	chr13:96020756-96020757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571998312	chr13:96020789-96020790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370296929	chr13:96020812-96020813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2993558	chr13:96020816-96020817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs72647197	chr13:96020828-96020829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9524944	chr13:96020864-96020865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530205049	chr13:96020868-96020869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540443656	chr13:96020894-96020895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190361384	chr13:96020896-96020897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150224954	chr13:96020912-96020913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531685160	chr13:96020950-96020951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116139841	chr13:96020999-96021000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182547623	chr13:96021056-96021057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560398365	chr13:96021057-96021058	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:4 , 50 per page) page: 1

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

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