Variant report

Variant	esv3411201
Chromosome Location	chr13:86184051-86187349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546742907	chr13:86184074-86184075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201576264	chr13:86184089-86184090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567003478	chr13:86184106-86184107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9602781	chr13:86184136-86184137	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs550645002	chr13:86184138-86184139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574762794	chr13:86184146-86184147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373718435	chr13:86184156-86184157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569051646	chr13:86184170-86184171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs597354	chr13:86184204-86184205	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs545575751	chr13:86184270-86184271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554545873	chr13:86184274-86184275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573442453	chr13:86184283-86184284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534239913	chr13:86184286-86184287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35435621	chr13:86184334-86184335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183133627	chr13:86184349-86184350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113254552	chr13:86184357-86184358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564246629	chr13:86184405-86184406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575590990	chr13:86184430-86184431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186459009	chr13:86184449-86184450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374954483	chr13:86184573-86184574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34737505	chr13:86184615-86184616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558953806	chr13:86184616-86184617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563360279	chr13:86184645-86184646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190844940	chr13:86184682-86184683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144858332	chr13:86184748-86184749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182606474	chr13:86184754-86184755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560740111	chr13:86184767-86184768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370588353	chr13:86184771-86184772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528361752	chr13:86184813-86184814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186944165	chr13:86184814-86184815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374240935	chr13:86184833-86184834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369407275	chr13:86184871-86184872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192503528	chr13:86184982-86184983	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Schizophrenia	23813976	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86182200-86184400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr13:86183400-86184800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr13:86183600-86184400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr13:86184800-86185000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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