Variant report

Variant	esv3359572
Chromosome Location	chr13:91596376-91598949
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	chr13:91595107..91597351-chr13:91610628..91613298,2	K562	blood:
2	chr13:91596707..91598815-chr13:91600900..91603675,2	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79670874	chr13:91596405-91596406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7996345	chr13:91596447-91596448	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs188846845	chr13:91596477-91596478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538040287	chr13:91596488-91596489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556026992	chr13:91596593-91596594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574433897	chr13:91596595-91596596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75185900	chr13:91596629-91596630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553776862	chr13:91596652-91596653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73599290	chr13:91596679-91596680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs9523202	chr13:91596713-91596714	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs377135216	chr13:91596716-91596717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531082075	chr13:91596785-91596786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34554152	chr13:91596786-91596787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549919719	chr13:91596808-91596809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145727247	chr13:91596810-91596811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192004536	chr13:91596818-91596819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148933080	chr13:91596853-91596854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184548668	chr13:91596861-91596862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562842968	chr13:91596919-91596920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190277492	chr13:91596940-91596941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182452662	chr13:91596987-91596988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566559637	chr13:91597011-91597012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564533322	chr13:91597012-91597013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117686894	chr13:91597014-91597015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550079159	chr13:91597029-91597030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552100036	chr13:91597117-91597118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570716092	chr13:91597139-91597140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201334499	chr13:91597151-91597152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537654663	chr13:91597232-91597233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376755402	chr13:91597256-91597257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12018754	chr13:91597259-91597260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185645	chr13:91597272-91597273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138396345	chr13:91597278-91597279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556278341	chr13:91597282-91597283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375734913	chr13:91597289-91597290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12019867	chr13:91597303-91597304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190626	chr13:91597307-91597308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12019751	chr13:91597322-91597323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28573246	chr13:91597325-91597326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12020294	chr13:91597328-91597329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58748013	chr13:91597349-91597350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs201370583	chr13:91597381-91597382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531118425	chr13:91597383-91597384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368187815	chr13:91597423-91597424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112176716	chr13:91597451-91597452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73599294	chr13:91597590-91597591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs67609503	chr13:91597684-91597685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs559300098	chr13:91597695-91597696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148166956	chr13:91597713-91597714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368161468	chr13:91597747-91597748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Non-syndromic sensorineural hearing loss	18496225	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:91596200-91596600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:91596400-91596600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:91596600-91599800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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