Variant report

Variant	esv3346344
Chromosome Location	chr13:51691751-51694849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:51643913..51644787-chr13:51694697..51695487,3	MCF-7	breast:
2	chr13:51689105..51690749-chr13:51693667..51695208,2	K562	blood:
3	chr13:51543503..51544049-chr13:51694341..51694999,2	MCF-7	breast:

Extended variants
information (count: 129 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372955328	chr13:51691765-51691766	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs138766224	chr13:51691773-51691774	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs114596916	chr13:51691792-51691793	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs556660577	chr13:51691849-51691850	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs576547387	chr13:51691899-51691900	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs564828616	chr13:51691920-51691921	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs538876620	chr13:51691934-51691935	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs186593423	chr13:51691970-51691971	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs572367515	chr13:51691980-51691981	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs191537303	chr13:51692069-51692070	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs183846960	chr13:51692106-51692107	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs9568523	chr13:51692159-51692160	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs9568524	chr13:51692174-51692175	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs560676118	chr13:51692192-51692193	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs562636870	chr13:51692205-51692206	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs9563025	chr13:51692280-51692281	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs34770446	chr13:51692308-51692309	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs549518930	chr13:51692388-51692389	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs187679645	chr13:51692395-51692396	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs192362139	chr13:51692399-51692400	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs147450690	chr13:51692401-51692402	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201034662	chr13:51692402-51692403	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9568525	chr13:51692414-51692415	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs539362089	chr13:51692518-51692519	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148882176	chr13:51692520-51692521	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554073686	chr13:51692524-51692525	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183359823	chr13:51692547-51692548	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9596457	chr13:51692548-51692549	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs186474434	chr13:51692566-51692567	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570105658	chr13:51692574-51692575	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192736659	chr13:51692597-51692598	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184726012	chr13:51692617-51692618	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572723490	chr13:51692686-51692687	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535239043	chr13:51692745-51692746	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190039332	chr13:51692782-51692783	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534982368	chr13:51692895-51692896	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192866256	chr13:51692923-51692924	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75619600	chr13:51692926-51692927	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74085539	chr13:51692933-51692934	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs555902763	chr13:51692967-51692968	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576166748	chr13:51692968-51692969	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34060607	chr13:51693049-51693050	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4284538	chr13:51693066-51693067	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs143690963	chr13:51693072-51693073	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527526675	chr13:51693077-51693078	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142317304	chr13:51693091-51693092	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185412384	chr13:51693114-51693115	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114612063	chr13:51693124-51693125	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189122334	chr13:51693134-51693135	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529968596	chr13:51693140-51693141	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
Trisomy	24170809	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
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	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
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21990379	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51672800-51692400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:51676200-51695200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr13:51686000-51693000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr13:51690000-51697000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr13:51691000-51693200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:51691800-51697400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr13:51692400-51693200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:51692400-51693800	Enhancers	Pancreas	Pancrea
9	chr13:51692600-51697000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr13:51692600-51697200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr13:51692800-51693200	ZNF genes & repeats	Aorta	Aorta
12	chr13:51693000-51693200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:51693000-51693200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr13:51693200-51693400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr13:51693200-51693400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
16	chr13:51693200-51694400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:51693200-51697200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr13:51693200-51700800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr13:51693800-51697000	Weak transcription	Pancreas	Pancrea
20	chr13:51694400-51695600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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