Variant report

Variant	nsv976222
Chromosome Location	chr13:110495093-110499364
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 174 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:174 , 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	rs540685179	chr13:110495103-110495104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560401504	chr13:110495146-110495147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187940142	chr13:110495158-110495159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150774164	chr13:110495170-110495171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139122598	chr13:110495206-110495207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144162003	chr13:110495240-110495241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375608924	chr13:110495253-110495254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192806099	chr13:110495260-110495261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533770904	chr13:110495279-110495280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553784311	chr13:110495291-110495292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs336239	chr13:110495323-110495324	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs183559597	chr13:110495324-110495325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146527691	chr13:110495398-110495399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575989283	chr13:110495433-110495434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544953864	chr13:110495453-110495454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9588007	chr13:110495517-110495518	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs578101067	chr13:110495526-110495527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189457785	chr13:110495604-110495605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540470080	chr13:110495637-110495638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181922506	chr13:110495662-110495663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570042925	chr13:110495671-110495672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542607087	chr13:110495699-110495700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553104201	chr13:110495707-110495708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9521527	chr13:110495729-110495730	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs531614105	chr13:110495736-110495737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551234199	chr13:110495748-110495749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114639322	chr13:110495758-110495759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527441198	chr13:110495796-110495797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547318396	chr13:110495812-110495813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567354503	chr13:110495813-110495814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557025584	chr13:110495831-110495832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536382944	chr13:110495869-110495870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549788163	chr13:110495884-110495885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113244100	chr13:110495889-110495890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138597470	chr13:110495983-110495984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139959479	chr13:110496011-110496012	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs336238	chr13:110496026-110496027	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs144237314	chr13:110496028-110496029	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs578192465	chr13:110496033-110496034	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs541470558	chr13:110496053-110496054	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs558333357	chr13:110496080-110496081	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs184598372	chr13:110496140-110496141	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs145187267	chr13:110496192-110496193	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs112541710	chr13:110496194-110496195	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs542678621	chr13:110496203-110496204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs149166645	chr13:110496210-110496211	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs143263932	chr13:110496257-110496258	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs190257327	chr13:110496292-110496293	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs375621608	chr13:110496351-110496352	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs578057389	chr13:110496358-110496359	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110488400-110496200	Weak transcription	Aorta	Aorta
2	chr13:110489600-110497200	Weak transcription	Stomach Mucosa	stomach
3	chr13:110492800-110496600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:110493000-110495200	Weak transcription	Right Ventricle	heart
5	chr13:110493000-110495600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:110493000-110496600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr13:110493000-110497800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr13:110493200-110498600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:110493200-110499200	Weak transcription	Right Atrium	heart
10	chr13:110493600-110496200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:110493600-110496600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr13:110493600-110496600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:110493600-110496600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:110493600-110496600	Weak transcription	Osteobl	bone
15	chr13:110493800-110496800	Weak transcription	HMEC	breast
16	chr13:110493800-110497000	Weak transcription	NH-A	brain
17	chr13:110494000-110496000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:110494000-110497000	Weak transcription	HSMMtube	muscle
19	chr13:110494800-110496600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr13:110494800-110496600	Weak transcription	HSMM	muscle
21	chr13:110495000-110495200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:110495200-110495800	Enhancers	Right Ventricle	heart
23	chr13:110495600-110495800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr13:110495600-110496000	Enhancers	Stomach Smooth Muscle	stomach
25	chr13:110495800-110497200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr13:110496000-110496600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
27	chr13:110496000-110496600	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr13:110496000-110497600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr13:110496200-110496400	Enhancers	Aorta	Aorta
30	chr13:110496200-110496400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
31	chr13:110496200-110496600	Enhancers	Colon Smooth Muscle	Colon
32	chr13:110496200-110497600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:110496200-110497600	Enhancers	Rectal Smooth Muscle	rectum
34	chr13:110496600-110496800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr13:110496600-110497000	Active TSS	Colon Smooth Muscle	Colon
36	chr13:110496600-110497000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr13:110496600-110497200	Enhancers	Osteobl	bone
38	chr13:110496600-110497400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr13:110496600-110497400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr13:110496600-110497400	Enhancers	Fetal Heart	heart
41	chr13:110496600-110497400	Active TSS	Stomach Smooth Muscle	stomach
42	chr13:110496600-110497600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:110496600-110497600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr13:110496600-110497600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr13:110496600-110497600	Enhancers	HSMM	muscle
46	chr13:110496800-110497400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr13:110496800-110497400	Enhancers	HMEC	breast
48	chr13:110497000-110497200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
49	chr13:110497000-110497400	Enhancers	HSMMtube	muscle
50	chr13:110497000-110497400	Enhancers	NH-A	brain

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