Variant report

Variant	esv2761784
Chromosome Location	chr13:40086325-40100095
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PROSER1-3	chr13:40100016-40107556	NONHSAT033305

Extended variants
information (count: 543 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:543 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6563718	chr13:40086325-40086326	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553626106	chr13:40086389-40086390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577141855	chr13:40086415-40086416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189056148	chr13:40086451-40086452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7993409	chr13:40086457-40086458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562619017	chr13:40086459-40086460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530662785	chr13:40086479-40086480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573659651	chr13:40086504-40086505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377475978	chr13:40086505-40086506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112025596	chr13:40086514-40086515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs55702746	chr13:40086534-40086535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546550532	chr13:40086538-40086539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184854034	chr13:40086566-40086567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570732161	chr13:40086570-40086571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189147392	chr13:40086596-40086597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568971410	chr13:40086608-40086609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538481116	chr13:40086609-40086610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539708797	chr13:40086612-40086613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568516287	chr13:40086620-40086621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534532881	chr13:40086655-40086656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554138349	chr13:40086705-40086706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565183661	chr13:40086738-40086739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373400529	chr13:40086748-40086749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370564031	chr13:40086749-40086750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370892940	chr13:40086758-40086759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7997947	chr13:40086824-40086825	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs114187448	chr13:40086915-40086916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs397949068	chr13:40086921-40086922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143319995	chr13:40086927-40086928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7335007	chr13:40086977-40086978	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs541911703	chr13:40087014-40087015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs180899204	chr13:40087025-40087026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186181515	chr13:40087047-40087048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111512471	chr13:40087128-40087129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560167253	chr13:40087130-40087131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372306056	chr13:40087144-40087145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532192340	chr13:40087183-40087184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552193136	chr13:40087193-40087194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568831633	chr13:40087208-40087209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564768795	chr13:40087257-40087258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547952309	chr13:40087302-40087303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568655642	chr13:40087323-40087324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534117630	chr13:40087351-40087352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554493415	chr13:40087432-40087433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75929724	chr13:40087448-40087449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146176090	chr13:40087457-40087458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs199988885	chr13:40087480-40087481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556139933	chr13:40087523-40087524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576000082	chr13:40087547-40087548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542324756	chr13:40087568-40087569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Glioma	17146433	CNVD
Malignant glioma	17146433	CNVD
Sudden cardiac death	19188705	CNVD
Primary mediastinal b-cell lymphoma	17728785	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

Chromatin state (count:214 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40074200-40094400	Weak transcription	Adipose Nuclei	Adipose
2	chr13:40076400-40089000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:40076400-40096000	Weak transcription	Lung	lung
4	chr13:40077400-40088400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:40077400-40088400	Weak transcription	Right Atrium	heart
6	chr13:40077600-40088400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:40077600-40101400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:40080000-40090400	Weak transcription	Psoas Muscle	Psoas
9	chr13:40080800-40088200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr13:40081400-40088600	Weak transcription	Aorta	Aorta
11	chr13:40081400-40088800	Weak transcription	Fetal Brain Female	brain
12	chr13:40081600-40086800	Weak transcription	Ovary	ovary
13	chr13:40081600-40089600	Weak transcription	Colon Smooth Muscle	Colon
14	chr13:40081600-40090200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:40081600-40096000	Weak transcription	Fetal Lung	lung
16	chr13:40081600-40096600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:40081800-40088000	Weak transcription	Right Ventricle	heart
18	chr13:40084600-40088000	Weak transcription	Left Ventricle	heart
19	chr13:40084600-40088200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr13:40084800-40086800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:40084800-40088200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr13:40084800-40088400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr13:40084800-40088600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr13:40084800-40089000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr13:40084800-40089400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:40084800-40089400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr13:40084800-40089400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr13:40084800-40089800	Weak transcription	Osteobl	bone
29	chr13:40085400-40090200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr13:40085800-40089400	Enhancers	Fetal Heart	heart
31	chr13:40086200-40086600	Weak transcription	NHEK	skin
32	chr13:40086200-40087200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr13:40086200-40087400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr13:40086200-40087400	Enhancers	HMEC	breast
35	chr13:40086600-40087400	Enhancers	NHEK	skin
36	chr13:40086800-40087200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr13:40086800-40087200	Enhancers	Ovary	ovary
38	chr13:40087000-40087200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr13:40087200-40088400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr13:40087200-40088600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr13:40087200-40090200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr13:40087200-40090200	Weak transcription	Ovary	ovary
43	chr13:40087200-40090400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr13:40087400-40090000	Weak transcription	HMEC	breast
45	chr13:40087400-40090200	Weak transcription	NHEK	skin
46	chr13:40087400-40090400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr13:40088000-40090800	Enhancers	Left Ventricle	heart
48	chr13:40088000-40090800	Enhancers	Right Ventricle	heart
49	chr13:40088200-40090400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr13:40088200-40090600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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