Variant report

Variant	nsv818957
Chromosome Location	chr13:40063104-40067857
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:40061815..40064290-chr13:40065605..40067303,2	K562	blood:
2	chr13:40061815..40064290-chr13:40065605..40067303,2	K562	blood:

Extended variants
information (count: 186 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:186 , 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	rs9566442	chr13:40063104-40063105	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548946884	chr13:40063105-40063106	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs141193391	chr13:40063132-40063133	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs182608861	chr13:40063147-40063148	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs551022763	chr13:40063148-40063149	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs373598398	chr13:40063177-40063178	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs571510156	chr13:40063178-40063179	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs537221075	chr13:40063195-40063196	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs573498024	chr13:40063205-40063206	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs557248475	chr13:40063242-40063243	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs370161278	chr13:40063263-40063264	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs79985845	chr13:40063268-40063269	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs536280055	chr13:40063275-40063276	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs9566443	chr13:40063298-40063299	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs536144975	chr13:40063313-40063314	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs9603548	chr13:40063359-40063360	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs574394897	chr13:40063360-40063361	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs9566444	chr13:40063507-40063508	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7333848	chr13:40063514-40063515	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs375723542	chr13:40063515-40063516	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs150332830	chr13:40063555-40063556	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs188121748	chr13:40063560-40063561	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs563378309	chr13:40063586-40063587	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs543605490	chr13:40063604-40063605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7334760	chr13:40063625-40063626	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs201071523	chr13:40063641-40063642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7139794	chr13:40063645-40063646	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs137870328	chr13:40063659-40063660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9576824	chr13:40063685-40063686	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs559311288	chr13:40063686-40063687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs33943302	chr13:40063688-40063689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386378886	chr13:40063696-40063697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555829615	chr13:40063708-40063709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528031933	chr13:40063730-40063731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7335002	chr13:40063753-40063754	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs570976186	chr13:40063761-40063762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537284183	chr13:40063772-40063773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147524393	chr13:40063850-40063851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182630174	chr13:40063852-40063853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536945757	chr13:40063869-40063870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368133114	chr13:40063881-40063882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7317187	chr13:40063929-40063930	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs569675426	chr13:40063934-40063935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568330045	chr13:40063942-40063943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7335427	chr13:40063974-40063975	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs559106981	chr13:40063991-40063992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9548782	chr13:40064026-40064027	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7335605	chr13:40064038-40064039	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs543668321	chr13:40064049-40064050	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566249809	chr13:40064198-40064199	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Ovarian cancer	22355333	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40043600-40068200	Weak transcription	Lung	lung
2	chr13:40051400-40064400	Weak transcription	HSMMtube	muscle
3	chr13:40057000-40070400	Weak transcription	Right Ventricle	heart
4	chr13:40057800-40063200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:40058400-40068200	Weak transcription	Right Atrium	heart
6	chr13:40058600-40063400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:40058600-40070800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr13:40059000-40064000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr13:40059000-40064200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr13:40059000-40064600	Weak transcription	Ovary	ovary
11	chr13:40059000-40073000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr13:40060000-40064600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr13:40060800-40063200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr13:40060800-40063200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr13:40060800-40068200	Weak transcription	Aorta	Aorta
16	chr13:40060800-40071800	Weak transcription	HSMM	muscle
17	chr13:40061400-40063800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr13:40061600-40064200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:40061600-40081000	Weak transcription	Osteobl	bone
20	chr13:40061800-40063200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr13:40061800-40064200	Weak transcription	Fetal Heart	heart
22	chr13:40062000-40063200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:40062400-40068400	Weak transcription	Fetal Muscle Leg	muscle
24	chr13:40062600-40063800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr13:40062600-40064000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr13:40062600-40065600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr13:40062600-40068200	Weak transcription	Left Ventricle	heart
28	chr13:40062600-40073000	Weak transcription	Psoas Muscle	Psoas
29	chr13:40063000-40063400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
30	chr13:40063000-40063600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr13:40063000-40065600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr13:40063200-40063400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:40063200-40063600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr13:40063200-40063600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
35	chr13:40063200-40064000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr13:40063200-40064000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr13:40063200-40064200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:40063400-40064200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:40063400-40064400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr13:40063400-40066200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr13:40063600-40064000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr13:40063600-40064400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr13:40063600-40064600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr13:40063800-40064200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr13:40063800-40064200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr13:40063800-40065600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr13:40064000-40064200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr13:40064000-40065000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr13:40064000-40065000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr13:40064000-40065400	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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