Variant report

Variant	nsv1031
Chromosome Location	chr13:48766510-48790172
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:48784546..48786736-chr13:48788727..48791333,2	K562	blood:
2	chr13:48759722..48761535-chr13:48765446..48768314,2	K562	blood:
3	chr13:48784546..48786736-chr13:48788727..48791333,2	K562	blood:

Extended variants
information (count: 631 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:631 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149314906	chr13:48766526-48766527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7329629	chr13:48766554-48766555	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs538225051	chr13:48766562-48766563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150234801	chr13:48766595-48766596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578175454	chr13:48766627-48766628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138952880	chr13:48766681-48766682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149000445	chr13:48766683-48766684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572294580	chr13:48766703-48766704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542858429	chr13:48766737-48766738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143807898	chr13:48766740-48766741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9534985	chr13:48766751-48766752	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs543369629	chr13:48766782-48766783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138546456	chr13:48766846-48766847	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs189328006	chr13:48766849-48766850	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs547707052	chr13:48766881-48766882	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs559732676	chr13:48766910-48766911	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs571691809	chr13:48766970-48766971	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs141523602	chr13:48767000-48767001	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs557415576	chr13:48767020-48767021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548442269	chr13:48767094-48767095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567716205	chr13:48767095-48767096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77138987	chr13:48767162-48767163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7994451	chr13:48767169-48767170	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs114919611	chr13:48767170-48767171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117463961	chr13:48767228-48767229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115644564	chr13:48767331-48767332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9534986	chr13:48767332-48767333	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs146213277	chr13:48767336-48767337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs137913700	chr13:48767353-48767354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141742636	chr13:48767364-48767365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543154442	chr13:48767369-48767370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558486464	chr13:48767399-48767400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576762855	chr13:48767415-48767416	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs534344233	chr13:48767479-48767480	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs7995331	chr13:48767487-48767488	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs139557056	chr13:48767491-48767492	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs12874965	chr13:48767492-48767493	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs12874056	chr13:48767508-48767509	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs530035556	chr13:48767513-48767514	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs12874081	chr13:48767565-48767566	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs12874083	chr13:48767567-48767568	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs180875684	chr13:48767587-48767588	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs12874459	chr13:48767602-48767603	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs563908137	chr13:48767659-48767660	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs532798658	chr13:48767695-48767696	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs187314414	chr13:48767714-48767715	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs531792028	chr13:48767723-48767724	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs549999315	chr13:48767795-48767796	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs571758485	chr13:48767798-48767799	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs532349444	chr13:48767811-48767812	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Thoracic aortic aneurysm	21092924	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
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
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
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
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
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	21750150	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Phyllodes tumor	17334353	CNVD
Retinoblastoma	22278416	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Osteosarcoma	21215367	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48762600-48766800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr13:48762600-48767400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr13:48762600-48767400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr13:48762800-48767000	Weak transcription	Primary B cells from cord blood	blood
5	chr13:48763400-48768000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr13:48763600-48767800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr13:48763800-48766600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr13:48763800-48766600	Enhancers	Fetal Intestine Large	intestine
9	chr13:48764200-48766600	Enhancers	Fetal Intestine Small	intestine
10	chr13:48764800-48774600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr13:48765600-48768000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr13:48766000-48768000	Weak transcription	HepG2	liver
13	chr13:48766200-48768200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr13:48766400-48766800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr13:48766400-48766800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr13:48766400-48766800	Enhancers	Lung	lung
17	chr13:48766400-48766800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr13:48766400-48767000	Enhancers	Primary B cells from peripheral blood	blood
19	chr13:48766400-48768800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr13:48766400-48769000	Enhancers	Primary T cells from cord blood	blood
21	chr13:48766400-48769000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr13:48766400-48769000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr13:48766400-48769000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr13:48766600-48767200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr13:48766600-48769000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr13:48766800-48767000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr13:48766800-48767600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr13:48766800-48768000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr13:48766800-48768000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr13:48767000-48767400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr13:48767000-48767400	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr13:48767000-48769600	Enhancers	Primary B cells from cord blood	blood
33	chr13:48767400-48769000	Enhancers	Primary hematopoietic stem cells	blood
34	chr13:48767400-48769000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr13:48767400-48769200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr13:48767400-48769400	Enhancers	Primary B cells from peripheral blood	blood
37	chr13:48767600-48768600	Enhancers	Primary T cells fromperipheralblood	blood
38	chr13:48767800-48768800	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr13:48768000-48768200	Flanking Active TSS	GM12878-XiMat	blood
40	chr13:48768000-48768400	Enhancers	HepG2	liver
41	chr13:48768000-48768600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr13:48768000-48768600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr13:48768000-48768800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr13:48768000-48768800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr13:48768000-48769000	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr13:48768200-48768600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr13:48768200-48769400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr13:48768400-48773000	Weak transcription	HepG2	liver
49	chr13:48768600-48769000	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr13:48768600-48769000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links