Variant report

Variant	esv18620
Chromosome Location	chr13:52883467-52894884
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr13:52885798..52888785-chr13:52889900..52891955,2	MCF-7	breast:
2	chr13:52885798..52888785-chr13:52889900..52891955,2	MCF-7	breast:
3	chr13:52888663..52890246-chr13:52890532..52893511,2	MCF-7	breast:
4	chr13:52888663..52890246-chr13:52890532..52893511,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-THSD1-4	chr13:52889589-52890110	NONHSAT033983
2	lnc-THSD1-4	chr13:52890481-52890534	NONHSAT033983
3	lnc-THSD1-4	chr13:52894685-52894718	NONHSAT033983

No data

Extended variants
information (count: 473 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:473 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181564100	chr13:52884612-52884613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369971240	chr13:52884615-52884616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139255685	chr13:52884622-52884623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571052231	chr13:52884630-52884631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562952902	chr13:52884637-52884638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs58452626	chr13:52884665-52884666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs7999601	chr13:52884669-52884670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567239825	chr13:52884723-52884724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536171858	chr13:52884730-52884731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184503893	chr13:52884746-52884747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569870676	chr13:52884805-52884806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138638708	chr13:52884828-52884829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74089427	chr13:52884965-52884966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs565115854	chr13:52884969-52884970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572493063	chr13:52884991-52884992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541492944	chr13:52885030-52885031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114119914	chr13:52885035-52885036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs60928383	chr13:52885059-52885060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs543725064	chr13:52885071-52885072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386771035	chr13:52885100-52885101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61193099	chr13:52885101-52885102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs547677203	chr13:52885106-52885107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149254877	chr13:52885121-52885122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549583037	chr13:52885135-52885136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376215425	chr13:52885166-52885167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559977030	chr13:52885188-52885189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144604436	chr13:52885200-52885201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369657808	chr13:52885290-52885291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9596641	chr13:52885320-52885321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372794276	chr13:52885323-52885324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77047262	chr13:52885329-52885330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536200330	chr13:52885359-52885360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549518538	chr13:52885360-52885361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569696704	chr13:52885401-52885402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148047528	chr13:52885406-52885407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538931071	chr13:52885429-52885430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552428257	chr13:52885443-52885444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557936403	chr13:52885486-52885487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565851855	chr13:52885495-52885496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565888809	chr13:52885496-52885497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187069166	chr13:52885497-52885498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376121508	chr13:52885505-52885506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555016963	chr13:52885511-52885512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538374157	chr13:52885547-52885548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574742366	chr13:52885548-52885549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537005506	chr13:52885562-52885563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141791469	chr13:52885563-52885564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145989310	chr13:52885604-52885605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546075906	chr13:52885613-52885614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111646094	chr13:52885619-52885620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52884600-52895400	Weak transcription	K562	blood
2	chr13:52894000-52894400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:52894000-52894400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:52894000-52894400	Enhancers	HMEC	breast
5	chr13:52894000-52895000	Enhancers	HSMM	muscle
6	chr13:52894200-52894400	Enhancers	Pancreas	Pancrea

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