Variant report

Variant	esv1798089
Chromosome Location	chr13:85784964-85804087
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:85784908..85787619-chr13:85787804..85790756,2	MCF-7	breast:
2	chr13:85784908..85787619-chr13:85787804..85790756,2	MCF-7	breast:

Extended variants
information (count: 288 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9594000	chr13:85797602-85797603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs137995249	chr13:85797605-85797606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143446379	chr13:85797611-85797612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187597741	chr13:85797612-85797613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9594001	chr13:85797620-85797621	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs527764615	chr13:85797621-85797622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191921971	chr13:85797625-85797626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138359759	chr13:85797656-85797657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115983259	chr13:85797657-85797658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149641339	chr13:85797674-85797675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144390849	chr13:85797687-85797688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529663968	chr13:85797699-85797700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570217390	chr13:85797709-85797710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148782055	chr13:85797724-85797725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531001863	chr13:85797725-85797726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374760048	chr13:85797732-85797733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536132791	chr13:85797743-85797744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142130162	chr13:85797744-85797745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146341496	chr13:85797776-85797777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182341215	chr13:85797781-85797782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35301954	chr13:85797810-85797811	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs139635767	chr13:85797836-85797837	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs542242928	chr13:85797903-85797904	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs186659451	chr13:85797957-85797958	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs386772943	chr13:85797981-85797982	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs7329835	chr13:85797982-85797983	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs564350567	chr13:85797997-85797998	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs189548717	chr13:85798006-85798007	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs144254105	chr13:85798019-85798020	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs146549040	chr13:85798055-85798056	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs529548127	chr13:85798062-85798063	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs116210678	chr13:85798063-85798064	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs566474401	chr13:85798078-85798079	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs527390550	chr13:85798081-85798082	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs552264910	chr13:85798083-85798084	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs114953120	chr13:85798153-85798154	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs538069253	chr13:85798181-85798182	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs556069909	chr13:85798195-85798196	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs139666162	chr13:85798227-85798228	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs182573266	chr13:85798230-85798231	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs75216347	chr13:85798275-85798276	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs149757777	chr13:85798295-85798296	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs115023031	chr13:85798305-85798306	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs386772944	chr13:85798312-85798313	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs148885601	chr13:85798313-85798314	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs571315194	chr13:85798314-85798315	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs544031557	chr13:85798339-85798340	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs562136559	chr13:85798342-85798343	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs187858243	chr13:85798359-85798360	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs371298547	chr13:85798361-85798362	Enhancers Weak transcription Active TSS	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85797600-85798000	Enhancers	Fetal Stomach	stomach
2	chr13:85797800-85798600	Enhancers	Fetal Heart	heart
3	chr13:85797800-85798800	Active TSS	Stomach Smooth Muscle	stomach
4	chr13:85798000-85798600	Enhancers	A549	lung
5	chr13:85798000-85798800	Enhancers	Fetal Lung	lung
6	chr13:85798000-85804200	Weak transcription	Fetal Stomach	stomach
7	chr13:85798800-85803600	Weak transcription	Fetal Lung	lung
8	chr13:85803600-85804200	Enhancers	Fetal Lung	lung

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