Variant report

Variant	esv3349006
Chromosome Location	chr13:90095901-90098299
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9522559	chr13:90095944-90095945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538032184	chr13:90095958-90095959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564165293	chr13:90095969-90095970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529946376	chr13:90095987-90095988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531514633	chr13:90096027-90096028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114347330	chr13:90096031-90096032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562992156	chr13:90096060-90096061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530182868	chr13:90096069-90096070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546541734	chr13:90096148-90096149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs137988218	chr13:90096165-90096166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553764707	chr13:90096175-90096176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532600622	chr13:90096179-90096180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566810291	chr13:90096180-90096181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368066396	chr13:90096200-90096201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528023312	chr13:90096201-90096202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552826694	chr13:90096209-90096210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189279502	chr13:90096221-90096222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538029500	chr13:90096251-90096252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569426383	chr13:90096262-90096263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34371525	chr13:90096278-90096279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397790812	chr13:90096279-90096280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556313925	chr13:90096287-90096288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567832057	chr13:90096341-90096342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182166541	chr13:90096566-90096567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186419978	chr13:90096567-90096568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9555890	chr13:90096569-90096570	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs202055082	chr13:90096605-90096606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545810719	chr13:90096620-90096621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558007863	chr13:90096636-90096637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576228227	chr13:90096646-90096647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543657903	chr13:90096685-90096686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561823151	chr13:90096694-90096695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7338372	chr13:90096705-90096706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542340346	chr13:90096764-90096765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34769692	chr13:90096787-90096788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs66617072	chr13:90096788-90096789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9301572	chr13:90096820-90096821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs527669877	chr13:90096916-90096917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142673439	chr13:90096981-90096982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571147370	chr13:90097007-90097008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531852525	chr13:90097047-90097048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549972634	chr13:90097104-90097105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112538697	chr13:90097156-90097157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112404334	chr13:90097186-90097187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181521763	chr13:90097210-90097211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34104329	chr13:90097251-90097252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9522560	chr13:90097263-90097264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553813197	chr13:90097267-90097268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565564980	chr13:90097291-90097292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34000249	chr13:90097312-90097313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	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
abnormal development	18461090	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:90078800-90107200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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