Variant report

Variant	esv3506185
Chromosome Location	chr13:39933377-39936825
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 172 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:172 , 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	rs140782514	chr13:39933459-39933460	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79240221	chr13:39933485-39933486	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559536496	chr13:39933573-39933574	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534072955	chr13:39933577-39933578	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528119692	chr13:39933595-39933596	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141236535	chr13:39933608-39933609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372128135	chr13:39933609-39933610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547112942	chr13:39933614-39933615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140204915	chr13:39933619-39933620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552851758	chr13:39933624-39933625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71077231	chr13:39933626-39933627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75610903	chr13:39933640-39933641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556179223	chr13:39933641-39933642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192078296	chr13:39933663-39933664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185288447	chr13:39933676-39933677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576723062	chr13:39933687-39933688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570050461	chr13:39933748-39933749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555904911	chr13:39933788-39933789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190217607	chr13:39933809-39933810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78421310	chr13:39933826-39933827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182438930	chr13:39933832-39933833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577921846	chr13:39933842-39933843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543517644	chr13:39933890-39933891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558845040	chr13:39933898-39933899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376130123	chr13:39933903-39933904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117723747	chr13:39933920-39933921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142026278	chr13:39933928-39933929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs80044033	chr13:39933937-39933938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77517664	chr13:39933938-39933939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530422999	chr13:39933947-39933948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541721072	chr13:39933991-39933992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184181374	chr13:39934015-39934016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6563698	chr13:39934077-39934078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs548009891	chr13:39934081-39934082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189404736	chr13:39934088-39934089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527631356	chr13:39934089-39934090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547668262	chr13:39934109-39934110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570357926	chr13:39934115-39934116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114544348	chr13:39934144-39934145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574606226	chr13:39934147-39934148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562549417	chr13:39934148-39934149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549920658	chr13:39934173-39934174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569792610	chr13:39934186-39934187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7999083	chr13:39934189-39934190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11321233	chr13:39934198-39934199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375335643	chr13:39934200-39934201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61945280	chr13:39934204-39934205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs8001260	chr13:39934219-39934220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs8000602	chr13:39934220-39934221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs8000604	chr13:39934226-39934227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Breast cancer	17899364	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
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	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
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	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
Ovarian cancer	22355333	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39925200-39936800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr13:39925200-39938600	Weak transcription	Aorta	Aorta
3	chr13:39928400-39936400	Weak transcription	Left Ventricle	heart
4	chr13:39928400-39939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr13:39928400-39939000	Weak transcription	Right Atrium	heart
6	chr13:39928800-39938800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:39929200-39938800	Weak transcription	Fetal Heart	heart
8	chr13:39933000-39933400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:39933400-39933600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:39933400-39933800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr13:39933600-39936400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:39933800-39937000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:39936000-39937800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr13:39936400-39937200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:39936400-39937400	Enhancers	Left Ventricle	heart
16	chr13:39936600-39941000	Enhancers	NHDF-Ad	bronchial
17	chr13:39936800-39937000	Enhancers	Gastric	stomach
18	chr13:39936800-39937000	Enhancers	NHEK	skin
19	chr13:39936800-39937200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr13:39936800-39937400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr13:39936800-39937400	Enhancers	Lung	lung
22	chr13:39936800-39937400	Enhancers	Right Ventricle	heart
23	chr13:39936800-39937600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr13:39936800-39937800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr13:39936800-39939400	Enhancers	Ovary	ovary
26	chr13:39936800-39939600	Enhancers	Brain Cingulate Gyrus	brain
27	chr13:39936800-39939600	Enhancers	Brain Substantia Nigra	brain
28	chr13:39936800-39939800	Enhancers	Fetal Lung	lung

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