Variant report

Variant	esv3406199
Chromosome Location	chr13:51145751-51150149
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	chr13:51148960..51151212-chr13:51161969..51163948,2	MCF-7	breast:

Extended variants
information (count: 226 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:226 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187680309	chr13:51145778-51145779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571593276	chr13:51145809-51145810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371380147	chr13:51145830-51145831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538931216	chr13:51145838-51145839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547284412	chr13:51145839-51145840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35569408	chr13:51145863-51145864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199659078	chr13:51145874-51145875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547030132	chr13:51145876-51145877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565821191	chr13:51145895-51145896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535986114	chr13:51145941-51145942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374691485	chr13:51145945-51145946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs770390	chr13:51145981-51145982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs373589903	chr13:51145989-51145990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35515154	chr13:51146002-51146003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs398117319	chr13:51146003-51146004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575714177	chr13:51146007-51146008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192878046	chr13:51146020-51146021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558124018	chr13:51146030-51146031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs706602	chr13:51146049-51146050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs545644957	chr13:51146065-51146066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3118917	chr13:51146069-51146070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572573577	chr13:51146073-51146074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34740181	chr13:51146080-51146081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112664273	chr13:51146084-51146085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78027438	chr13:51146090-51146091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76419802	chr13:51146141-51146142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs398117320	chr13:51146148-51146149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542771551	chr13:51146168-51146169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs706601	chr13:51146206-51146207	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs706600	chr13:51146236-51146237	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs74077863	chr13:51146267-51146268	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs565270530	chr13:51146277-51146278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562997837	chr13:51146334-51146335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531947854	chr13:51146376-51146377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144453187	chr13:51146389-51146390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547641512	chr13:51146424-51146425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201757677	chr13:51146452-51146453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74077864	chr13:51146599-51146600	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs74077867	chr13:51146635-51146636	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs770391	chr13:51146641-51146642	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs184934519	chr13:51146664-51146665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190222520	chr13:51146685-51146686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536736113	chr13:51146704-51146705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181607587	chr13:51146754-51146755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576384973	chr13:51146766-51146767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs770392	chr13:51146807-51146808	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs35845543	chr13:51146808-51146809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554413512	chr13:51146869-51146870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572635895	chr13:51146874-51146875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs770393	chr13:51146893-51146894	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Sezary syndrome	18413736	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51142200-51146400	Weak transcription	Fetal Lung	lung
2	chr13:51146200-51146600	Enhancers	Right Atrium	heart
3	chr13:51146200-51146800	Enhancers	Liver	Liver
4	chr13:51146200-51146800	Enhancers	Osteobl	bone
5	chr13:51146200-51151200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr13:51146400-51146600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:51146400-51146600	Enhancers	Fetal Lung	lung
8	chr13:51146400-51146600	Enhancers	Left Ventricle	heart
9	chr13:51146400-51146600	Enhancers	Right Ventricle	heart
10	chr13:51146400-51146600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr13:51146400-51146800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:51146400-51146800	Enhancers	Adipose Nuclei	Adipose
13	chr13:51146400-51148600	Enhancers	HSMMtube	muscle
14	chr13:51146600-51147400	Weak transcription	Fetal Lung	lung
15	chr13:51146600-51147600	Enhancers	Fetal Heart	heart
16	chr13:51146600-51147600	Weak transcription	Right Ventricle	heart
17	chr13:51146600-51147600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr13:51146600-51150200	Weak transcription	Right Atrium	heart
19	chr13:51146800-51147200	Weak transcription	Osteobl	bone
20	chr13:51146800-51148800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:51146800-51149800	Weak transcription	Liver	Liver
22	chr13:51146800-51150400	Weak transcription	Adipose Nuclei	Adipose
23	chr13:51147000-51148200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:51147200-51151200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr13:51147200-51151200	Enhancers	Osteobl	bone
26	chr13:51147400-51147600	Enhancers	Fetal Lung	lung
27	chr13:51147600-51147800	Flanking Active TSS	Fetal Heart	heart
28	chr13:51147600-51147800	Flanking Active TSS	Fetal Lung	lung
29	chr13:51147600-51147800	Enhancers	Dnd41	blood
30	chr13:51147600-51148000	Enhancers	Psoas Muscle	Psoas
31	chr13:51147600-51148200	ZNF genes & repeats	Fetal Kidney	kidney
32	chr13:51147600-51148200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr13:51147600-51148400	Enhancers	Right Ventricle	heart
34	chr13:51147600-51148400	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr13:51147600-51151000	Enhancers	Gastric	stomach
36	chr13:51147600-51151200	Enhancers	HSMM	muscle
37	chr13:51147800-51148000	Transcr. at gene 5' and 3'	Fetal Heart	heart
38	chr13:51147800-51148200	Active TSS	Fetal Lung	lung
39	chr13:51147800-51148200	Enhancers	Pancreas	Pancrea
40	chr13:51147800-51160800	Weak transcription	Dnd41	blood
41	chr13:51148000-51148200	Genic enhancers	Fetal Heart	heart
42	chr13:51148000-51149000	Enhancers	NHDF-Ad	bronchial
43	chr13:51148000-51152400	Weak transcription	Psoas Muscle	Psoas
44	chr13:51148200-51148800	Enhancers	Fetal Heart	heart
45	chr13:51148200-51148800	Weak transcription	Fetal Kidney	kidney
46	chr13:51148200-51149400	Weak transcription	Pancreas	Pancrea
47	chr13:51148200-51149800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr13:51148200-51150400	Enhancers	HepG2	liver
49	chr13:51148200-51151400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr13:51148400-51148800	Weak transcription	Right Ventricle	heart

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