Variant report

Variant	nsv562416
Chromosome Location	chr13:80456018-80459531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12584575	chr13:80456018-80456019	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182232685	chr13:80456019-80456020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7320666	chr13:80456027-80456028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563188292	chr13:80456035-80456036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532283172	chr13:80456139-80456140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552488743	chr13:80456165-80456166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565971100	chr13:80456180-80456181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528739586	chr13:80456217-80456218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186774848	chr13:80456230-80456231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115344675	chr13:80456238-80456239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537011538	chr13:80456269-80456270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150748187	chr13:80456328-80456329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190136111	chr13:80456363-80456364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576846127	chr13:80456378-80456379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139075605	chr13:80456439-80456440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7321144	chr13:80456454-80456455	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs572240001	chr13:80456462-80456463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541241342	chr13:80456478-80456479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562104492	chr13:80456485-80456486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370597119	chr13:80456486-80456487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554862052	chr13:80456517-80456518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374174731	chr13:80456521-80456522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529644932	chr13:80456522-80456523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs58882861	chr13:80456552-80456553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563338999	chr13:80456555-80456556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576852811	chr13:80456571-80456572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143823213	chr13:80456613-80456614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559044198	chr13:80456621-80456622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528628390	chr13:80456640-80456641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548384656	chr13:80456688-80456689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561998466	chr13:80456791-80456792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116410212	chr13:80456794-80456795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561629335	chr13:80456798-80456799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117720407	chr13:80456831-80456832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539470520	chr13:80456832-80456833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547078980	chr13:80456842-80456843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146857239	chr13:80456844-80456845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139677085	chr13:80456849-80456850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9601280	chr13:80456952-80456953	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs181251486	chr13:80456972-80456973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537388166	chr13:80456995-80456996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570576756	chr13:80457156-80457157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185407029	chr13:80457159-80457160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556665278	chr13:80457177-80457178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376514311	chr13:80457220-80457221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576744339	chr13:80457240-80457241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189825673	chr13:80457263-80457264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558983999	chr13:80457267-80457268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572609461	chr13:80457281-80457282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376149171	chr13:80457317-80457318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80449000-80472400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:80449400-80458800	Weak transcription	Thymus	Thymus
3	chr13:80452800-80457800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:80452800-80459000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr13:80454400-80456200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr13:80454400-80456200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr13:80455400-80461400	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr13:80456200-80458800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr13:80456200-80459200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr13:80456200-80461400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:80457400-80458000	Enhancers	Fetal Heart	heart
12	chr13:80457600-80459400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr13:80457800-80459200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:80457800-80459400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:80458000-80459200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr13:80458200-80459400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr13:80458200-80459600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr13:80458400-80459400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr13:80458400-80459400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr13:80458600-80459600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:80458600-80459600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr13:80458800-80459200	Enhancers	Thymus	Thymus
23	chr13:80458800-80459400	Enhancers	Primary hematopoietic stem cells	blood
24	chr13:80458800-80459600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr13:80458800-80461400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr13:80459000-80459200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr13:80459000-80459400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr13:80459000-80459400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr13:80459000-80459400	Enhancers	Fetal Thymus	thymus
30	chr13:80459200-80459400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr13:80459200-80460800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:80459200-80461000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr13:80459400-80460600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr13:80459400-80460600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr13:80459400-80461200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr13:80459400-80461200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr13:80459400-80461200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr13:80459400-80461200	Weak transcription	Fetal Thymus	thymus

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