Variant report

Variant	esv3519464
Chromosome Location	chr13:92385251-92393599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:92383340..92385444-chr13:92386472..92389094,2	K562	blood:
2	chr13:91999828..92001377-chr13:92382768..92385377,2	K562	blood:
3	chr13:92392822..92394386-chr13:92398507..92400283,2	K562	blood:
4	chr13:92383340..92385444-chr13:92386472..92389094,2	K562	blood:
5	chr13:92367826..92370130-chr13:92386601..92389593,3	K562	blood:
6	chr13:91999817..92002695-chr13:92390327..92393222,2	K562	blood:
7	chr13:92387450..92389027-chr13:92396587..92398169,2	K562	blood:
8	chr13:92008256..92010781-chr13:92387538..92390308,3	K562	blood:
9	chr13:92007816..92009567-chr13:92393385..92396123,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215417	chromatin interactions

Extended variants
information (count: 296 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:296 , 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	rs537526824	chr13:92385256-92385257	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs189379653	chr13:92385257-92385258	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs181590017	chr13:92385335-92385336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs572926714	chr13:92385355-92385356	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs151220434	chr13:92385395-92385396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553299031	chr13:92385412-92385413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140350042	chr13:92385429-92385430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532371355	chr13:92385439-92385440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540633083	chr13:92385440-92385441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113959696	chr13:92385460-92385461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564073626	chr13:92385462-92385463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186055112	chr13:92385477-92385478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543530697	chr13:92385514-92385515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150404613	chr13:92385515-92385516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529140219	chr13:92385587-92385588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113774196	chr13:92385595-92385596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549156122	chr13:92385635-92385636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565992216	chr13:92385666-92385667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138122363	chr13:92385731-92385732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74547951	chr13:92385769-92385770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551508751	chr13:92385796-92385797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571644480	chr13:92385834-92385835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537035996	chr13:92385866-92385867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565878870	chr13:92385867-92385868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557470706	chr13:92385910-92385911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567418935	chr13:92385914-92385915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190770925	chr13:92385927-92385928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553109158	chr13:92385943-92385944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372320726	chr13:92385968-92385969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545653114	chr13:92386058-92386059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77255661	chr13:92386064-92386065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74490043	chr13:92386066-92386067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111854603	chr13:92386086-92386087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183291478	chr13:92386096-92386097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558963223	chr13:92386097-92386098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551584690	chr13:92386136-92386137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577598657	chr13:92386140-92386141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543039218	chr13:92386187-92386188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74241697	chr13:92386194-92386195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143926401	chr13:92386208-92386209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573741424	chr13:92386294-92386295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542861858	chr13:92386355-92386356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139282387	chr13:92386395-92386396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369424734	chr13:92386418-92386419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551690252	chr13:92386448-92386449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542771947	chr13:92386477-92386478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186334494	chr13:92386529-92386530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565025421	chr13:92386531-92386532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537713173	chr13:92386533-92386534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530981639	chr13:92386540-92386541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Small bowel adenocarcinoma	21586687	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
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92383000-92419400	Weak transcription	Hela-S3	cervix
2	chr13:92392200-92393400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr13:92392200-92393400	Enhancers	Brain Germinal Matrix	brain
4	chr13:92393400-92399400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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