Variant report

Variant	esv3440637
Chromosome Location	chr13:84770251-84773349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149081700	chr13:84770267-84770268	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs533446473	chr13:84770290-84770291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs143087397	chr13:84770317-84770318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs181130194	chr13:84770320-84770321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs536002646	chr13:84770364-84770365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs115216452	chr13:84770365-84770366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs568990283	chr13:84770436-84770437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs116645558	chr13:84770454-84770455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs557724522	chr13:84770463-84770464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs185967143	chr13:84770476-84770477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs539562716	chr13:84770496-84770497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs575139323	chr13:84770529-84770530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs558188151	chr13:84770552-84770553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs552518880	chr13:84770553-84770554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs9602393	chr13:84770584-84770585	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs561522483	chr13:84770631-84770632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541451773	chr13:84770653-84770654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573870167	chr13:84770733-84770734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368573285	chr13:84770760-84770761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190068049	chr13:84770832-84770833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557883278	chr13:84770944-84770945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531418827	chr13:84770957-84770958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573643058	chr13:84770960-84770961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376404960	chr13:84770992-84770993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370931752	chr13:84770996-84770997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181649909	chr13:84771014-84771015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547086050	chr13:84771075-84771076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74528811	chr13:84771178-84771179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374557596	chr13:84771206-84771207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549152790	chr13:84771306-84771307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569151423	chr13:84771346-84771347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7990198	chr13:84771366-84771367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs551415930	chr13:84771379-84771380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17286868	chr13:84771392-84771393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534164558	chr13:84771464-84771465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553899518	chr13:84771470-84771471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375962321	chr13:84771568-84771569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538150560	chr13:84771571-84771572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187211587	chr13:84771601-84771602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536583838	chr13:84771660-84771661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112821957	chr13:84771725-84771726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576348671	chr13:84771726-84771727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545224658	chr13:84771882-84771883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200322856	chr13:84771897-84771898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145197336	chr13:84772047-84772048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572060751	chr13:84772091-84772092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541000926	chr13:84772119-84772120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77465938	chr13:84772133-84772134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9602394	chr13:84772136-84772137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs549316301	chr13:84772149-84772150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	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
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Congenital anomalies of the kidney and urinary tract	18316590	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Epilepsy	20502679	CNVD
Osteosarcoma	21215367	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:84769200-84770600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:84770600-84778800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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