Variant report

Variant	nsv983585
Chromosome Location	chr13:48900751-48902867
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199686727	chr13:48900751-48900752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368809750	chr13:48900766-48900767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112226810	chr13:48900769-48900770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142248890	chr13:48900861-48900862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150903727	chr13:48900883-48900884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548716117	chr13:48900917-48900918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567110033	chr13:48900920-48900921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192657482	chr13:48900988-48900989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549778550	chr13:48901011-48901012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571496553	chr13:48901065-48901066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555561475	chr13:48901070-48901071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115654865	chr13:48901074-48901075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553997783	chr13:48901091-48901092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572314597	chr13:48901125-48901126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534236525	chr13:48901155-48901156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs58805302	chr13:48901236-48901237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555841841	chr13:48901268-48901269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35106396	chr13:48901318-48901319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs397818708	chr13:48901330-48901331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369285627	chr13:48901331-48901332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573920357	chr13:48901338-48901339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4151438	chr13:48901375-48901376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562773762	chr13:48901398-48901399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34745805	chr13:48901422-48901423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4151439	chr13:48901432-48901433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578185919	chr13:48901439-48901440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184162140	chr13:48901523-48901524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560310152	chr13:48901542-48901543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527882608	chr13:48901585-48901586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149662124	chr13:48901590-48901591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561059683	chr13:48901756-48901757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34066925	chr13:48901769-48901770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531333574	chr13:48901781-48901782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568615898	chr13:48901783-48901784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34135926	chr13:48901804-48901805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537598425	chr13:48901842-48901843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4151440	chr13:48901867-48901868	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs4151441	chr13:48901875-48901876	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs190718133	chr13:48901881-48901882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181769879	chr13:48901896-48901897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186128256	chr13:48901933-48901934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565836448	chr13:48901952-48901953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144647847	chr13:48901961-48901962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374736520	chr13:48901965-48901966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116899072	chr13:48901985-48901986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567729391	chr13:48902065-48902066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537991316	chr13:48902073-48902074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556513275	chr13:48902079-48902080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144005223	chr13:48902106-48902107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4151442	chr13:48902121-48902122	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:124)

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
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
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
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung adenocarcinoma	21151896	CNVD
Breast cancer	21518781	CNVD
Mantle cell lymphoma	21518781	CNVD
Ovarian cancer	21518781	CNVD
Retinoblastoma	21518781	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Osteosarcoma	21215367	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48880200-48913200	Weak transcription	Aorta	Aorta
2	chr13:48880600-48924600	Weak transcription	Psoas Muscle	Psoas
3	chr13:48892600-48927800	Weak transcription	HUVEC	blood vessel
4	chr13:48894400-48906400	Weak transcription	Pancreas	Pancrea
5	chr13:48894400-48913800	Weak transcription	HSMM	muscle
6	chr13:48894600-48919200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:48894800-48907600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr13:48894800-48913200	Weak transcription	Lung	lung
9	chr13:48895200-48916800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr13:48895200-48923600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr13:48895200-48924600	Weak transcription	HSMMtube	muscle
12	chr13:48895400-48902800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr13:48895400-48908200	Weak transcription	Small Intestine	intestine
14	chr13:48895400-48912800	Weak transcription	Fetal Thymus	thymus
15	chr13:48895400-48924800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr13:48895600-48913400	Weak transcription	Ovary	ovary
17	chr13:48895800-48919600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr13:48895800-48920400	Weak transcription	Right Ventricle	heart
19	chr13:48895800-48926600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr13:48896000-48902600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr13:48896000-48913000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr13:48896000-48913000	Weak transcription	Left Ventricle	heart
23	chr13:48896000-48913000	Weak transcription	Thymus	Thymus
24	chr13:48896000-48919800	Weak transcription	Primary T cells from cord blood	blood
25	chr13:48896200-48907600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:48896200-48908000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:48896600-48902400	Weak transcription	Primary B cells from cord blood	blood
28	chr13:48896600-48913000	Weak transcription	Fetal Lung	lung
29	chr13:48896800-48902200	Weak transcription	Dnd41	blood
30	chr13:48896800-48902400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr13:48897000-48900800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr13:48897000-48903600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:48897000-48907800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr13:48897000-48917000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr13:48897200-48907600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr13:48897400-48903600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:48897400-48904600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr13:48897400-48909800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr13:48899200-48900800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr13:48899600-48902200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr13:48900200-48913000	Weak transcription	Fetal Intestine Large	intestine
42	chr13:48900800-48905200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr13:48902200-48903800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr13:48902200-48904000	Strong transcription	Dnd41	blood
45	chr13:48902400-48902800	Strong transcription	Primary B cells from cord blood	blood
46	chr13:48902400-48904000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr13:48902600-48903000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr13:48902600-48912600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr13:48902600-48913000	Weak transcription	Esophagus	oesophagus
50	chr13:48902800-48903600	Weak transcription	Primary B cells from cord blood	blood

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