Variant report

Variant	esv3444732
Chromosome Location	chr13:61674951-61678349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 146 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181428703	chr13:61674953-61674954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530632901	chr13:61674959-61674960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141473432	chr13:61674974-61674975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185917902	chr13:61674975-61674976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145967150	chr13:61674989-61674990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557296654	chr13:61674993-61674994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112724922	chr13:61675034-61675035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542719368	chr13:61675071-61675072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560997375	chr13:61675084-61675085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376746657	chr13:61675101-61675102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189120898	chr13:61675102-61675103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182259378	chr13:61675136-61675137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs3121809	chr13:61675331-61675332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533102936	chr13:61675346-61675347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76971437	chr13:61675377-61675378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187309374	chr13:61675480-61675481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143141990	chr13:61675505-61675506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146675939	chr13:61675582-61675583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567410320	chr13:61675598-61675599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192405727	chr13:61675611-61675612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546648352	chr13:61675613-61675614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182505907	chr13:61675638-61675639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373859747	chr13:61675644-61675645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560143205	chr13:61675685-61675686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148998145	chr13:61675726-61675727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566352827	chr13:61675765-61675766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368434969	chr13:61675811-61675812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368552915	chr13:61675829-61675830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs58362032	chr13:61675849-61675850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71867155	chr13:61675850-61675851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397938839	chr13:61675851-61675852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554950096	chr13:61675929-61675930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575749677	chr13:61675933-61675934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185218708	chr13:61675938-61675939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372509266	chr13:61675957-61675958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531569775	chr13:61675966-61675967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559748263	chr13:61676004-61676005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540306429	chr13:61676013-61676014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528297120	chr13:61676014-61676015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537161567	chr13:61676019-61676020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565157145	chr13:61676020-61676021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7327135	chr13:61676027-61676028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190083527	chr13:61676060-61676061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544978768	chr13:61676080-61676081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112035610	chr13:61676100-61676101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368029855	chr13:61676122-61676123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7991819	chr13:61676130-61676131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs7991828	chr13:61676153-61676154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs528219891	chr13:61676174-61676175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368054533	chr13:61676200-61676201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	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
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Esophageal squamous carcinoma	20200074	CNVD
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:61672600-61677000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:61677000-61677800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:61677800-61687000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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