Variant report

Variant	esv11645
Chromosome Location	chr13:54981601-54988098
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 255 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:255 , 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	rs539129720	chr13:54981610-54981611	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558733414	chr13:54981611-54981612	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572411753	chr13:54981613-54981614	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76727469	chr13:54981614-54981615	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555731195	chr13:54981669-54981670	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573618760	chr13:54981741-54981742	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371018473	chr13:54981751-54981752	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554066033	chr13:54981850-54981851	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190674211	chr13:54981907-54981908	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373645096	chr13:54981919-54981920	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577438442	chr13:54981932-54981933	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs137905661	chr13:54981958-54981959	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112588704	chr13:54981977-54981978	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544714602	chr13:54981980-54981981	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183337552	chr13:54981981-54981982	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527303023	chr13:54981997-54981998	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547055578	chr13:54982042-54982043	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186919549	chr13:54982074-54982075	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9536712	chr13:54982105-54982106	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192282598	chr13:54982118-54982119	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550442452	chr13:54982146-54982147	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143847131	chr13:54982177-54982178	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539192736	chr13:54982184-54982185	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559022749	chr13:54982192-54982193	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78137944	chr13:54982221-54982222	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115384538	chr13:54982225-54982226	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575733002	chr13:54982227-54982228	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554659192	chr13:54982242-54982243	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573647054	chr13:54982285-54982286	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542518246	chr13:54982324-54982325	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539967740	chr13:54982349-54982350	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34420872	chr13:54982355-54982356	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575848019	chr13:54982365-54982366	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148278818	chr13:54982490-54982491	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565019761	chr13:54982522-54982523	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12872309	chr13:54982531-54982532	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7322335	chr13:54982542-54982543	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs370803547	chr13:54982549-54982550	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12873375	chr13:54982563-54982564	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114576746	chr13:54982583-54982584	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564777859	chr13:54982587-54982588	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7323746	chr13:54982606-54982607	ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs12872321	chr13:54982616-54982617	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12872327	chr13:54982622-54982623	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141314858	chr13:54982637-54982638	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12872463	chr13:54982648-54982649	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12872343	chr13:54982649-54982650	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12872352	chr13:54982660-54982661	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12872724	chr13:54982682-54982683	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150781475	chr13:54982684-54982685	ZNF genes & repeats Strong 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
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	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
Urothelial carcinoma	21177765	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54969600-54982400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr13:54976800-54982600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr13:54977600-54983000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:54980800-54982000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
5	chr13:54982000-54983000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr13:54982400-54982800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
7	chr13:54982600-54982800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr13:54982800-54983000	Active TSS	HSMM	muscle
9	chr13:54982800-54984400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr13:54982800-54989200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr13:54983000-54983200	Flanking Active TSS	HSMM	muscle
12	chr13:54983000-54983800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:54983800-54987000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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