Variant report

Variant	nsv1049669
Chromosome Location	chr13:40081362-40095803
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 596 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:596 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142579524	chr13:40081370-40081371	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs112554295	chr13:40081371-40081372	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs536521118	chr13:40081378-40081379	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs17807293	chr13:40081401-40081402	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537807436	chr13:40081427-40081428	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs548340136	chr13:40081456-40081457	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs184556870	chr13:40081465-40081466	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs150927983	chr13:40081466-40081467	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs561868540	chr13:40081474-40081475	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs7337064	chr13:40081482-40081483	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs577319061	chr13:40081526-40081527	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs570025990	chr13:40081591-40081592	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs539037526	chr13:40081608-40081609	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs189390711	chr13:40081616-40081617	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs180745393	chr13:40081617-40081618	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs113908492	chr13:40081679-40081680	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs556406172	chr13:40081692-40081693	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs559005347	chr13:40081694-40081695	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs111965221	chr13:40081696-40081697	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs112375902	chr13:40081744-40081745	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs71211839	chr13:40081751-40081752	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs140727790	chr13:40081775-40081776	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs572486950	chr13:40081806-40081807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71080305	chr13:40081817-40081818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9548786	chr13:40081818-40081819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs8000438	chr13:40081843-40081844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150475500	chr13:40081846-40081847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9548787	chr13:40081865-40081866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs202051884	chr13:40081873-40081874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566791276	chr13:40081893-40081894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541127929	chr13:40081916-40081917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112901956	chr13:40081942-40081943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532182516	chr13:40081943-40081944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546137435	chr13:40081945-40081946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554837261	chr13:40081992-40081993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376348783	chr13:40082026-40082027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7983519	chr13:40082030-40082031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs61373894	chr13:40082041-40082042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs8000140	chr13:40082042-40082043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7983527	chr13:40082048-40082049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377455229	chr13:40082053-40082054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7983532	chr13:40082054-40082055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562756502	chr13:40082059-40082060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531363278	chr13:40082071-40082072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9603555	chr13:40082094-40082095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548205586	chr13:40082141-40082142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376697398	chr13:40082143-40082144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565566457	chr13:40082164-40082165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146637046	chr13:40082188-40082189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527383476	chr13:40082218-40082219	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:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40073800-40084200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr13:40074200-40094400	Weak transcription	Adipose Nuclei	Adipose
3	chr13:40076400-40081400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr13:40076400-40084000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr13:40076400-40084000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr13:40076400-40089000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr13:40076400-40096000	Weak transcription	Lung	lung
8	chr13:40077400-40088400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:40077400-40088400	Weak transcription	Right Atrium	heart
10	chr13:40077600-40088400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:40077600-40101400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:40078800-40081800	Enhancers	Fetal Heart	heart
13	chr13:40079800-40081600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr13:40080000-40090400	Weak transcription	Psoas Muscle	Psoas
15	chr13:40080400-40081400	Enhancers	Aorta	Aorta
16	chr13:40080400-40081600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr13:40080400-40081600	Enhancers	Left Ventricle	heart
18	chr13:40080400-40081600	Enhancers	NHLF	lung
19	chr13:40080600-40081800	Enhancers	Right Ventricle	heart
20	chr13:40080600-40082000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr13:40080800-40081400	Enhancers	Fetal Brain Female	brain
22	chr13:40080800-40081600	Enhancers	Fetal Lung	lung
23	chr13:40080800-40081600	Flanking Active TSS	HMEC	breast
24	chr13:40080800-40081800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr13:40080800-40081800	Flanking Active TSS	NHEK	skin
26	chr13:40080800-40088200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr13:40081000-40081400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr13:40081000-40081400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr13:40081000-40081400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr13:40081000-40081400	Enhancers	Fetal Brain Male	brain
31	chr13:40081000-40081600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr13:40081000-40081600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr13:40081000-40081600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr13:40081000-40081600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr13:40081000-40081600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr13:40081000-40081600	Enhancers	Rectal Smooth Muscle	rectum
37	chr13:40081000-40081800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr13:40081000-40081800	Enhancers	Osteobl	bone
39	chr13:40081200-40081400	Enhancers	Fetal Muscle Leg	muscle
40	chr13:40081200-40081400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr13:40081200-40081400	Enhancers	Stomach Smooth Muscle	stomach
42	chr13:40081200-40081600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr13:40081200-40081600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:40081200-40081600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr13:40081200-40081600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr13:40081200-40081600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr13:40081200-40081600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr13:40081200-40081600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr13:40081200-40081600	Enhancers	Colon Smooth Muscle	Colon
50	chr13:40081200-40081600	Enhancers	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links