Variant report

Variant	esv2435780
Chromosome Location	chr13:94898710-94900102
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573185980	chr13:94898793-94898794	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs552477779	chr13:94898812-94898813	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs538831854	chr13:94898827-94898828	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs181221187	chr13:94898855-94898856	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs146948768	chr13:94898970-94898971	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs9524386	chr13:94898990-94898991	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs561177354	chr13:94899066-94899067	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs574821686	chr13:94899072-94899073	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs540619129	chr13:94899091-94899092	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs559715296	chr13:94899114-94899115	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs528419921	chr13:94899136-94899137	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs538543984	chr13:94899166-94899167	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs187088569	chr13:94899205-94899206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs118076219	chr13:94899272-94899273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148013840	chr13:94899292-94899293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567240269	chr13:94899295-94899296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533981990	chr13:94899365-94899366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535878985	chr13:94899383-94899384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369983536	chr13:94899391-94899392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141618479	chr13:94899405-94899406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566102825	chr13:94899407-94899408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191676714	chr13:94899415-94899416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150519049	chr13:94899423-94899424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181665598	chr13:94899429-94899430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538050345	chr13:94899435-94899436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554293634	chr13:94899504-94899505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577444169	chr13:94899521-94899522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555083055	chr13:94899525-94899526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111523707	chr13:94899547-94899548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72645997	chr13:94899568-94899569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs139616734	chr13:94899589-94899590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554226207	chr13:94899671-94899672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577271502	chr13:94899690-94899691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141800749	chr13:94899714-94899715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565031498	chr13:94899732-94899733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77534674	chr13:94899743-94899744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375870800	chr13:94899777-94899778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146275665	chr13:94899781-94899782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35268213	chr13:94899808-94899809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs398037773	chr13:94899813-94899814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561067670	chr13:94899823-94899824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186300755	chr13:94899841-94899842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139267238	chr13:94899844-94899845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546255233	chr13:94899894-94899895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538982917	chr13:94899908-94899909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35339723	chr13:94899942-94899943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190717560	chr13:94899945-94899946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117476112	chr13:94899946-94899947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182359996	chr13:94899980-94899981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144108213	chr13:94899985-94899986	Weak transcription	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
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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94892200-94901400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:94896200-94901000	Weak transcription	NHDF-Ad	bronchial
3	chr13:94898600-94899200	ZNF genes & repeats	HSMM	muscle
4	chr13:94899200-94901000	Weak transcription	HSMM	muscle
5	chr13:94900000-94902200	Enhancers	HMEC	breast

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