Variant report

Variant	nsv442325
Chromosome Location	chr13:110673610-110675199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7998044	chr13:110673614-110673615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139484415	chr13:110673615-110673616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75908495	chr13:110673617-110673618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75832377	chr13:110673641-110673642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9634476	chr13:110673648-110673649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs557102438	chr13:110673695-110673696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559012368	chr13:110673741-110673742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184930418	chr13:110673798-110673799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143166000	chr13:110673815-110673816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78862775	chr13:110673825-110673826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569717464	chr13:110673834-110673835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538750993	chr13:110673858-110673859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146696743	chr13:110673862-110673863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572082387	chr13:110673878-110673879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115161551	chr13:110673918-110673919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78970007	chr13:110673972-110673973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574412013	chr13:110673974-110673975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542933059	chr13:110674006-110674007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189876289	chr13:110674008-110674009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531783490	chr13:110674049-110674050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181097855	chr13:110674071-110674072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528217044	chr13:110674074-110674075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564997703	chr13:110674138-110674139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527769018	chr13:110674156-110674157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184564617	chr13:110674161-110674162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139157310	chr13:110674166-110674167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530019130	chr13:110674169-110674170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544706301	chr13:110674189-110674190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368191354	chr13:110674205-110674206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549778909	chr13:110674240-110674241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144104339	chr13:110674267-110674268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538417608	chr13:110674280-110674281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545241251	chr13:110674289-110674290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552393108	chr13:110674337-110674338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565828384	chr13:110674369-110674370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371947864	chr13:110674489-110674490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144984986	chr13:110674490-110674491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188151290	chr13:110674517-110674518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78636560	chr13:110674551-110674552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556533016	chr13:110674556-110674557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558671368	chr13:110674577-110674578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576587428	chr13:110674592-110674593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545236472	chr13:110674606-110674607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565132398	chr13:110674737-110674738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77415252	chr13:110674738-110674739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541093674	chr13:110674763-110674764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544193455	chr13:110674797-110674798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560763621	chr13:110674816-110674817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182030710	chr13:110674819-110674820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550060535	chr13:110674827-110674828	Weak transcription Enhancers	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
Cancer	20164919	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
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	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
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110670600-110675000	Weak transcription	Left Ventricle	heart
2	chr13:110670600-110675600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:110670600-110675600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:110670800-110675800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:110670800-110675800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr13:110670800-110676000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:110670800-110676000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:110671000-110674800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:110671000-110676200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:110671000-110676200	Weak transcription	Osteobl	bone
11	chr13:110671000-110676400	Weak transcription	NH-A	brain
12	chr13:110671200-110674400	Weak transcription	HMEC	breast
13	chr13:110671200-110676000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr13:110673600-110675800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr13:110673600-110676000	Weak transcription	NHLF	lung
16	chr13:110674000-110674200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr13:110674400-110675200	Enhancers	HMEC	breast
18	chr13:110674400-110675200	Enhancers	NHEK	skin
19	chr13:110674800-110675000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:110674800-110675000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr13:110674800-110675800	Enhancers	Stomach Smooth Muscle	stomach
22	chr13:110675000-110677000	Enhancers	Left Ventricle	heart
23	chr13:110675000-110677000	Enhancers	Right Atrium	heart

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