Variant report

Variant	esv3447971
Chromosome Location	chr13:85568185-85568556
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183438314	chr13:85568188-85568189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9531698	chr13:85568190-85568191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552351915	chr13:85568202-85568203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564292632	chr13:85568232-85568233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12585294	chr13:85568235-85568236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187759160	chr13:85568239-85568240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568441802	chr13:85568244-85568245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535525541	chr13:85568250-85568251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71210944	chr13:85568259-85568260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs565999432	chr13:85568262-85568263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12584582	chr13:85568263-85568264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs184446690	chr13:85568264-85568265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12583725	chr13:85568265-85568266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537333924	chr13:85568268-85568269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555670179	chr13:85568269-85568270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574373401	chr13:85568273-85568274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189379220	chr13:85568274-85568275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56745729	chr13:85568275-85568276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543975414	chr13:85568284-85568285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376025428	chr13:85568287-85568288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550789058	chr13:85568293-85568294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531562843	chr13:85568301-85568302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562494482	chr13:85568309-85568310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543736650	chr13:85568312-85568313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561874002	chr13:85568323-85568324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141403279	chr13:85568327-85568328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9531699	chr13:85568330-85568331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs566483380	chr13:85568334-85568335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527271183	chr13:85568337-85568338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184855742	chr13:85568338-85568339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56672550	chr13:85568340-85568341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569895592	chr13:85568341-85568342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537296523	chr13:85568360-85568361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555633356	chr13:85568373-85568374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567824860	chr13:85568385-85568386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535346340	chr13:85568389-85568390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557450993	chr13:85568392-85568393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9602620	chr13:85568393-85568394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs9602621	chr13:85568400-85568401	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs557142441	chr13:85568416-85568417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545891032	chr13:85568423-85568424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73542207	chr13:85568431-85568432	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs77758040	chr13:85568432-85568433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs367937497	chr13:85568447-85568448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554943589	chr13:85568462-85568463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73542208	chr13:85568463-85568464	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs377269204	chr13:85568468-85568469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147515704	chr13:85568469-85568470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541334813	chr13:85568471-85568472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181610673	chr13:85568478-85568479	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85568000-85568400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:85568400-85569200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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