Variant report

Variant	nsv1041977
Chromosome Location	chr13:38962265-39002924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STOML3-9	chr13:38998016-39005556	ucscGeneNc_uc001uxg_2

Extended variants
information (count: 1425 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1425 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2455413	chr13:38962265-38962266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557783444	chr13:38962266-38962267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578027419	chr13:38962334-38962335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17057940	chr13:38962369-38962370	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs191713001	chr13:38962420-38962421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573724202	chr13:38962475-38962476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184978950	chr13:38962524-38962525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188631394	chr13:38962539-38962540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573008811	chr13:38962547-38962548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144213731	chr13:38962580-38962581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551409767	chr13:38962581-38962582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75912064	chr13:38962596-38962597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372480528	chr13:38962634-38962635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192974899	chr13:38962650-38962651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75235709	chr13:38962678-38962679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550841337	chr13:38962680-38962681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34796099	chr13:38962794-38962795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185612365	chr13:38962795-38962796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34556412	chr13:38962823-38962824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536403852	chr13:38962828-38962829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375768361	chr13:38962829-38962830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116270895	chr13:38962879-38962880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189562107	chr13:38962909-38962910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73176736	chr13:38962912-38962913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs80312912	chr13:38962943-38962944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs151024105	chr13:38962973-38962974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2481892	chr13:38962982-38962983	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs557261186	chr13:38962988-38962989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183830403	chr13:38963019-38963020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542414983	chr13:38963036-38963037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557223245	chr13:38963051-38963052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559498095	chr13:38963114-38963115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573298308	chr13:38963136-38963137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140995094	chr13:38963144-38963145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564966909	chr13:38963214-38963215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530786883	chr13:38963219-38963220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369927438	chr13:38963233-38963234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550871529	chr13:38963242-38963243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535424418	chr13:38963243-38963244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35267706	chr13:38963251-38963252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530417527	chr13:38963260-38963261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546918510	chr13:38963263-38963264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563194281	chr13:38963267-38963268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567035899	chr13:38963287-38963288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188498713	chr13:38963315-38963316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181340905	chr13:38963317-38963318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571276595	chr13:38963324-38963325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186509234	chr13:38963372-38963373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17057943	chr13:38963392-38963393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17057948	chr13:38963417-38963418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	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
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	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
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	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
Cancer	17440070	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38957200-38962400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:38959400-38962600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr13:38959600-38962600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr13:38961200-38968800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr13:38961200-38968800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:38962400-38963000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr13:38962400-38963200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr13:38962400-38963400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:38962600-38963000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr13:38962600-38963000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr13:38963400-38964600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:38964600-38966600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:38965000-38965800	Weak transcription	Fetal Lung	lung
14	chr13:38965600-38966000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:38965600-38966200	Enhancers	Fetal Heart	heart
16	chr13:38965800-38966000	Enhancers	Fetal Lung	lung
17	chr13:38966000-38966200	Enhancers	Brain Germinal Matrix	brain
18	chr13:38966400-38966800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr13:38966600-38968800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:38966800-38967000	Enhancers	Brain Germinal Matrix	brain
21	chr13:38968600-38969400	Enhancers	Hela-S3	cervix
22	chr13:38968600-38970000	Enhancers	NHEK	skin
23	chr13:38968800-38969000	Enhancers	NHDF-Ad	bronchial
24	chr13:38968800-38969400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr13:38968800-38969400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:38968800-38969400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:38968800-38969600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr13:38968800-38969800	Enhancers	Fetal Kidney	kidney
29	chr13:38968800-38970000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr13:38968800-38970000	Enhancers	HMEC	breast
31	chr13:38969000-38969600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr13:38969000-38969600	Weak transcription	NHDF-Ad	bronchial
33	chr13:38969000-38969800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr13:38969200-38969800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr13:38969200-38969800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr13:38969400-38969800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:38969400-38969800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr13:38969400-38969800	Flanking Active TSS	Hela-S3	cervix
39	chr13:38969400-38970000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr13:38969600-38969800	Enhancers	NHDF-Ad	bronchial
41	chr13:38969600-38972800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr13:38969800-38970000	Enhancers	Hela-S3	cervix
43	chr13:38969800-38972800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr13:38969800-38972800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr13:38969800-38972800	Weak transcription	NHDF-Ad	bronchial
46	chr13:38969800-38973000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr13:38969800-38975400	Weak transcription	Fetal Kidney	kidney
48	chr13:38970000-38972800	Weak transcription	Hela-S3	cervix
49	chr13:38970000-38972800	Weak transcription	NHEK	skin
50	chr13:38970000-38973000	Weak transcription	HMEC	breast

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