Variant report

Variant	esv3324704
Chromosome Location	chr13:51690951-51695249
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	chr13:51694862..51696683-chr13:51697397..51699887,2	MCF-7	breast:
4	chr13:51543503..51544049-chr13:51694341..51694999,2	MCF-7	breast:

Extended variants
information (count: 177 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60395954	chr13:51690968-51690969	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529003555	chr13:51690983-51690984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548867709	chr13:51690988-51690989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569039873	chr13:51691014-51691015	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs537702319	chr13:51691024-51691025	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs551746905	chr13:51691025-51691026	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs571657822	chr13:51691029-51691030	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs532198865	chr13:51691034-51691035	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs12875596	chr13:51691082-51691083	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs574016961	chr13:51691089-51691090	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs536760104	chr13:51691121-51691122	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs35920041	chr13:51691136-51691137	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs59612004	chr13:51691139-51691140	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs576626968	chr13:51691171-51691172	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs139993340	chr13:51691231-51691232	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs143361075	chr13:51691239-51691240	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs189927326	chr13:51691248-51691249	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs539812560	chr13:51691303-51691304	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs12876050	chr13:51691355-51691356	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs528937796	chr13:51691377-51691378	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs367983279	chr13:51691378-51691379	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs371657240	chr13:51691393-51691394	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs7324137	chr13:51691397-51691398	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs61956842	chr13:51691473-51691474	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs145580563	chr13:51691523-51691524	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs551685091	chr13:51691556-51691557	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs1328359	chr13:51691661-51691662	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs7329231	chr13:51691664-51691665	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs368986628	chr13:51691673-51691674	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs547773816	chr13:51691688-51691689	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs567654958	chr13:51691691-51691692	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs574909079	chr13:51691750-51691751	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs372955328	chr13:51691765-51691766	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs138766224	chr13:51691773-51691774	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs114596916	chr13:51691792-51691793	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs556660577	chr13:51691849-51691850	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs576547387	chr13:51691899-51691900	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs564828616	chr13:51691920-51691921	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs538876620	chr13:51691934-51691935	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs186593423	chr13:51691970-51691971	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs572367515	chr13:51691980-51691981	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs191537303	chr13:51692069-51692070	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs183846960	chr13:51692106-51692107	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs9568523	chr13:51692159-51692160	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs9568524	chr13:51692174-51692175	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs560676118	chr13:51692192-51692193	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs562636870	chr13:51692205-51692206	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs9563025	chr13:51692280-51692281	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs34770446	chr13:51692308-51692309	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs549518930	chr13:51692388-51692389	Weak transcription ZNF genes & repeats	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:23 , 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	chr13:51685200-51691000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:51686000-51693000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:51690000-51697000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr13:51691000-51693200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:51691800-51697400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr13:51692400-51693200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:51692400-51693800	Enhancers	Pancreas	Pancrea
10	chr13:51692600-51697000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr13:51692600-51697200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr13:51692800-51693200	ZNF genes & repeats	Aorta	Aorta
13	chr13:51693000-51693200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:51693000-51693200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr13:51693200-51693400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:51693200-51693400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
17	chr13:51693200-51694400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:51693200-51697200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:51693200-51700800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr13:51693800-51697000	Weak transcription	Pancreas	Pancrea
21	chr13:51694400-51695600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr13:51695200-51695600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr13:51695200-51695600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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