Variant report

Variant	esv3328500
Chromosome Location	chr13:85047892-85049915
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2121418	chr13:85047911-85047912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2121417	chr13:85047928-85047929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs573242610	chr13:85047931-85047932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148233878	chr13:85047936-85047937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555655073	chr13:85047974-85047975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575557181	chr13:85047984-85047985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544067338	chr13:85047986-85047987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184161255	chr13:85048042-85048043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532906588	chr13:85048097-85048098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76764585	chr13:85048098-85048099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141209989	chr13:85048099-85048100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575578855	chr13:85048128-85048129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559725719	chr13:85048132-85048133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146226094	chr13:85048156-85048157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548516001	chr13:85048173-85048174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568403505	chr13:85048182-85048183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113060595	chr13:85048203-85048204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550877132	chr13:85048243-85048244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112015011	chr13:85048283-85048284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539567099	chr13:85048290-85048291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199879804	chr13:85048291-85048292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553465129	chr13:85048318-85048319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566877173	chr13:85048333-85048334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535848734	chr13:85048352-85048353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555740518	chr13:85048385-85048386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375430567	chr13:85048386-85048387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573255056	chr13:85048394-85048395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12430133	chr13:85048405-85048406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12428083	chr13:85048428-85048429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs557682408	chr13:85048431-85048432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376597067	chr13:85048439-85048440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577725583	chr13:85048461-85048462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539953667	chr13:85048471-85048472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367816420	chr13:85048491-85048492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145936052	chr13:85048495-85048496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9531595	chr13:85048567-85048568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs77855215	chr13:85048591-85048592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562075753	chr13:85048638-85048639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530754370	chr13:85048649-85048650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34982315	chr13:85048697-85048698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs551223465	chr13:85048729-85048730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150054997	chr13:85048788-85048789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12430170	chr13:85048790-85048791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs373035289	chr13:85048839-85048840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547163075	chr13:85048891-85048892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78141440	chr13:85048911-85048912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142401345	chr13:85048914-85048915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555820054	chr13:85048946-85048947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550020594	chr13:85048951-85048952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569199677	chr13:85048991-85048992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
Epilepsy	20502679	CNVD
Non-small cell lung cancer	16651412	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85045200-85055200	Weak transcription	Aorta	Aorta

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