Variant report

Variant	nsv900901
Chromosome Location	chr13:92727985-92772499
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 284 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368542072	chr13:92734265-92734266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575859802	chr13:92734271-92734272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191764135	chr13:92734328-92734329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140976266	chr13:92734355-92734356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183293554	chr13:92734362-92734363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150223870	chr13:92734434-92734435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149222367	chr13:92734445-92734446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11839910	chr13:92734455-92734456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369792404	chr13:92734525-92734526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528220307	chr13:92734538-92734539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187585770	chr13:92734544-92734545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1831011	chr13:92734566-92734567	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs148929900	chr13:92734570-92734571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544791491	chr13:92734573-92734574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550606446	chr13:92734594-92734595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552323028	chr13:92734599-92734600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567414086	chr13:92734637-92734638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529830932	chr13:92734641-92734642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546437148	chr13:92734642-92734643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566605764	chr13:92734659-92734660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538762630	chr13:92734715-92734716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572489830	chr13:92734781-92734782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143681780	chr13:92734804-92734805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569159139	chr13:92734810-92734811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138474576	chr13:92734838-92734839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554953439	chr13:92734868-92734869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7335937	chr13:92734872-92734873	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs192351980	chr13:92734875-92734876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554438493	chr13:92734897-92734898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564846882	chr13:92734957-92734958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375803910	chr13:92734963-92734964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541123918	chr13:92734969-92734970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572943755	chr13:92734995-92734996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143098481	chr13:92735012-92735013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564572385	chr13:92735020-92735021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564854088	chr13:92735060-92735061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530434863	chr13:92735063-92735064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544237042	chr13:92735066-92735067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561023041	chr13:92735087-92735088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9589421	chr13:92735099-92735100	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs4773662	chr13:92735105-92735106	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs566351428	chr13:92735120-92735121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532421294	chr13:92735164-92735165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184949348	chr13:92735166-92735167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569371669	chr13:92735170-92735171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537846799	chr13:92735174-92735175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77517429	chr13:92735175-92735176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548588674	chr13:92735212-92735213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186756868	chr13:92735238-92735239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550415703	chr13:92735271-92735272	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92734200-92735600	Enhancers	Fetal Heart	heart
2	chr13:92748800-92749800	Enhancers	Hela-S3	cervix
3	chr13:92753000-92755200	Enhancers	Fetal Heart	heart
4	chr13:92753600-92753800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:92753600-92754000	Enhancers	Colon Smooth Muscle	Colon
6	chr13:92754000-92755200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr13:92754000-92755800	Weak transcription	Colon Smooth Muscle	Colon
8	chr13:92754200-92756200	Enhancers	Ovary	ovary
9	chr13:92754200-92757200	Enhancers	Fetal Lung	lung
10	chr13:92755000-92755400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr13:92755000-92755600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:92755000-92756600	Enhancers	Fetal Kidney	kidney
13	chr13:92755200-92755600	Weak transcription	Fetal Heart	heart
14	chr13:92755200-92756400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr13:92755200-92756400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr13:92755600-92756000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:92755600-92756400	Enhancers	Fetal Heart	heart
18	chr13:92755800-92756200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr13:92755800-92756400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr13:92755800-92756400	Enhancers	Colon Smooth Muscle	Colon
21	chr13:92755800-92756400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr13:92755800-92756600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr13:92755800-92756600	Enhancers	Fetal Intestine Large	intestine
24	chr13:92755800-92756600	Enhancers	Fetal Stomach	stomach
25	chr13:92755800-92757800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:92756000-92756600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr13:92756000-92756600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr13:92756000-92756600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:92756000-92756600	Enhancers	Fetal Intestine Small	intestine
30	chr13:92756000-92756600	Enhancers	Pancreas	Pancrea
31	chr13:92756200-92757000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr13:92757000-92757200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr13:92772000-92772600	Enhancers	Fetal Heart	heart

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