Variant report

Variant	nsv900589
Chromosome Location	chr13:80250511-80310295
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:80253561..80254069-chr13:81591390..81592333,2	K562	blood:
2	chr13:80298179..80299787-chr13:80311880..80314794,2	K562	blood:
3	chr13:80252954..80253780-chr13:80916738..80917720,2	MCF-7	breast:

Extended variants
information (count: 1616 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1616 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12583361	chr13:80250511-80250512	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141804944	chr13:80250543-80250544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544932941	chr13:80250555-80250556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569184864	chr13:80250606-80250607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545662292	chr13:80250635-80250636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559222743	chr13:80250646-80250647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146186605	chr13:80250653-80250654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139062762	chr13:80250829-80250830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561754833	chr13:80250845-80250846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530508028	chr13:80250895-80250896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75430337	chr13:80250905-80250906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550668343	chr13:80250911-80250912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186903608	chr13:80250932-80250933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564719516	chr13:80250933-80250934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571030714	chr13:80251028-80251029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17071755	chr13:80251029-80251030	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs80138218	chr13:80251048-80251049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567161530	chr13:80251081-80251082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555576205	chr13:80251106-80251107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536192009	chr13:80251161-80251162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555453823	chr13:80251167-80251168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2208943	chr13:80251200-80251201	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs4335681	chr13:80251246-80251247	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs143976490	chr13:80251256-80251257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192722218	chr13:80251267-80251268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369799466	chr13:80251277-80251278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369894621	chr13:80251324-80251325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374667187	chr13:80251343-80251344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572781575	chr13:80251345-80251346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182404692	chr13:80251367-80251368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189227024	chr13:80251388-80251389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575218398	chr13:80251391-80251392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543927091	chr13:80251408-80251409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202121725	chr13:80251420-80251421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4506784	chr13:80251427-80251428	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs144970831	chr13:80251468-80251469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17071769	chr13:80251485-80251486	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs148637721	chr13:80251497-80251498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530582362	chr13:80251522-80251523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529544242	chr13:80251574-80251575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193096029	chr13:80251642-80251643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142926729	chr13:80251643-80251644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538239720	chr13:80251651-80251652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551418199	chr13:80251695-80251696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184659457	chr13:80251714-80251715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575645841	chr13:80251717-80251718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534058761	chr13:80251767-80251768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552736928	chr13:80251832-80251833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572719399	chr13:80251840-80251841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536918217	chr13:80251856-80251857	Enhancers 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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Breast cancer	21364760	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Schizophrenia	19197363	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80238600-80255000	Weak transcription	Psoas Muscle	Psoas
2	chr13:80246600-80260600	Weak transcription	Fetal Lung	lung
3	chr13:80248000-80254800	Weak transcription	Fetal Muscle Leg	muscle
4	chr13:80248200-80250800	Enhancers	NHEK	skin
5	chr13:80248200-80252000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:80248400-80250600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr13:80248600-80251000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:80248600-80252400	Weak transcription	HSMMtube	muscle
9	chr13:80248800-80250800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:80249000-80251400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr13:80249200-80253400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr13:80249800-80252200	Weak transcription	HMEC	breast
13	chr13:80250000-80253400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:80250200-80250600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr13:80250200-80250600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr13:80250200-80250800	Enhancers	Fetal Heart	heart
17	chr13:80250400-80250600	Enhancers	Duodenum Mucosa	Duodenum
18	chr13:80250400-80250600	Enhancers	Esophagus	oesophagus
19	chr13:80250400-80251400	Enhancers	Fetal Intestine Large	intestine
20	chr13:80250400-80252800	Enhancers	Fetal Intestine Small	intestine
21	chr13:80250600-80252000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:80250600-80255200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr13:80250800-80252200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr13:80250800-80252600	Weak transcription	NHEK	skin
25	chr13:80251000-80252000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:80251200-80251400	Enhancers	Duodenum Mucosa	Duodenum
27	chr13:80251200-80252200	Enhancers	Fetal Stomach	stomach
28	chr13:80251400-80254800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr13:80252000-80252200	Enhancers	Aorta	Aorta
30	chr13:80252000-80252400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr13:80252000-80252400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr13:80252000-80252600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr13:80252000-80253000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr13:80252000-80253200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:80252000-80253400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr13:80252000-80253400	Enhancers	HSMM	muscle
37	chr13:80252000-80253600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr13:80252200-80252800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr13:80252200-80252800	Enhancers	NH-A	brain
40	chr13:80252200-80253400	Enhancers	HMEC	breast
41	chr13:80252200-80257200	Weak transcription	Aorta	Aorta
42	chr13:80252400-80253400	Enhancers	Placenta Amnion	Placenta Amnion
43	chr13:80252400-80253400	Enhancers	HSMMtube	muscle
44	chr13:80252400-80254800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr13:80252600-80253400	Enhancers	NHEK	skin
46	chr13:80252800-80253400	Weak transcription	Fetal Intestine Small	intestine
47	chr13:80252800-80254800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr13:80253000-80255200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr13:80253200-80253400	Enhancers	Fetal Kidney	kidney
50	chr13:80253200-80253600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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