Variant report

Variant	esv3324229
Chromosome Location	chr13:94134951-94138249
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	chr13:94130713..94132921-chr13:94134439..94135999,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191929443	chr13:94134969-94134970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9516239	chr13:94134972-94134973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs375633975	chr13:94135011-94135012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147340937	chr13:94135015-94135016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577682255	chr13:94135022-94135023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs137919535	chr13:94135040-94135041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563541805	chr13:94135041-94135042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141783218	chr13:94135042-94135043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542952182	chr13:94135043-94135044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9516240	chr13:94135061-94135062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs77419024	chr13:94135063-94135064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9516241	chr13:94135139-94135140	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs116990138	chr13:94135150-94135151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531058210	chr13:94135165-94135166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150601419	chr13:94135206-94135207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542367318	chr13:94135207-94135208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549976191	chr13:94135230-94135231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184698304	chr13:94135236-94135237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376488999	chr13:94135268-94135269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529091272	chr13:94135333-94135334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549325921	chr13:94135362-94135363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565964245	chr13:94135365-94135366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4427663	chr13:94135398-94135399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9561362	chr13:94135433-94135434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190287012	chr13:94135437-94135438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571108284	chr13:94135465-94135466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537158344	chr13:94135519-94135520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542807775	chr13:94135554-94135555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376044614	chr13:94135560-94135561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556625323	chr13:94135572-94135573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529144003	chr13:94135598-94135599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573941188	chr13:94135632-94135633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572993038	chr13:94135693-94135694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536621141	chr13:94135717-94135718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375164614	chr13:94135745-94135746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542793010	chr13:94135770-94135771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548292846	chr13:94135802-94135803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553288878	chr13:94135826-94135827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9524083	chr13:94135893-94135894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545350530	chr13:94135896-94135897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9524084	chr13:94135913-94135914	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs192815014	chr13:94135916-94135917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530773882	chr13:94135945-94135946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544759043	chr13:94135946-94135947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115034166	chr13:94135957-94135958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139558704	chr13:94135978-94135979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185782755	chr13:94135992-94135993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7996583	chr13:94136009-94136010	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs149306766	chr13:94136026-94136027	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs528388474	chr13:94136038-94136039	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	21987784	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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94128800-94136000	Weak transcription	Aorta	Aorta
2	chr13:94136000-94136200	Active TSS	Aorta	Aorta

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