Variant report

Variant	esv3345034
Chromosome Location	chr13:86303401-86305524
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556490652	chr13:86303406-86303407	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs574887541	chr13:86303424-86303425	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs542499544	chr13:86303430-86303431	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs560806419	chr13:86303551-86303552	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs553860861	chr13:86303572-86303573	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs572673510	chr13:86303616-86303617	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs187367474	chr13:86303627-86303628	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs74102093	chr13:86303673-86303674	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs138126140	chr13:86303713-86303714	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs550408321	chr13:86303719-86303720	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs562466704	chr13:86303746-86303747	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs529683688	chr13:86303756-86303757	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs543123407	chr13:86303792-86303793	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs561799797	chr13:86303810-86303811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529013108	chr13:86303929-86303930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566459967	chr13:86303935-86303936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75614350	chr13:86303942-86303943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374307330	chr13:86304106-86304107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375738675	chr13:86304107-86304108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114745769	chr13:86304123-86304124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192198663	chr13:86304131-86304132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538288881	chr13:86304132-86304133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201998148	chr13:86304136-86304137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149537682	chr13:86304146-86304147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377003714	chr13:86304155-86304156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369531696	chr13:86304162-86304163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374225597	chr13:86304170-86304171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375847177	chr13:86304195-86304196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370215153	chr13:86304216-86304217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371590128	chr13:86304230-86304231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372491973	chr13:86304235-86304236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527939538	chr13:86304240-86304241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376994850	chr13:86304243-86304244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111586147	chr13:86304258-86304259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552911594	chr13:86304265-86304266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370371138	chr13:86304273-86304274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372786827	chr13:86304284-86304285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571026444	chr13:86304292-86304293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115213432	chr13:86304294-86304295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376044911	chr13:86304300-86304301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374805904	chr13:86304303-86304304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370731084	chr13:86304311-86304312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368871793	chr13:86304330-86304331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535617374	chr13:86304339-86304340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375342946	chr13:86304346-86304347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375899813	chr13:86304350-86304351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368130576	chr13:86304351-86304352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554133522	chr13:86304365-86304366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368539239	chr13:86304366-86304367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371510118	chr13:86304367-86304368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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	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
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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86274000-86313200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:86303200-86304000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr13:86303400-86303800	Flanking Active TSS	A549	lung
4	chr13:86303400-86312600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:86303600-86303800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:86303800-86304000	Enhancers	A549	lung
7	chr13:86303800-86312600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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