Variant report

Variant	nsv561586
Chromosome Location	chr13:47822976-47842680
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRCH1-5	chr13:47840097-47840780	NONHSAT033677

Extended variants
information (count: 399 )
Associated
traits (count: 134 )

Variant overlapped rSNPs/rCNVs (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61951603	chr13:47823003-47823004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374266819	chr13:47823014-47823015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191114147	chr13:47823042-47823043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182960691	chr13:47823052-47823053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545929332	chr13:47823056-47823057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12864065	chr13:47823114-47823115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575381219	chr13:47823151-47823152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377381966	chr13:47823154-47823155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537513321	chr13:47823191-47823192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113966102	chr13:47823194-47823195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564488985	chr13:47823195-47823196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115865823	chr13:47823237-47823238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541365345	chr13:47823280-47823281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187581617	chr13:47823281-47823282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs386770723	chr13:47823289-47823290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184533250	chr13:47823290-47823291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187458328	chr13:47823291-47823292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374342304	chr13:47823292-47823293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114982391	chr13:47823373-47823374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570132091	chr13:47823388-47823389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145712511	chr13:47823400-47823401	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546921128	chr13:47823401-47823402	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147321252	chr13:47823407-47823408	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139483856	chr13:47823478-47823479	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557534029	chr13:47823479-47823480	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372386352	chr13:47823481-47823482	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575706988	chr13:47823587-47823588	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576884353	chr13:47823631-47823632	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9534573	chr13:47823658-47823659	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs370040437	chr13:47823660-47823661	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142840416	chr13:47823674-47823675	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60584596	chr13:47823675-47823676	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558262439	chr13:47823719-47823720	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9595629	chr13:47823735-47823736	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540622967	chr13:47823785-47823786	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149870654	chr13:47823797-47823798	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144955408	chr13:47823819-47823820	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184282302	chr13:47823840-47823841	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563516220	chr13:47823889-47823890	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146492102	chr13:47823896-47823897	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530590051	chr13:47823976-47823977	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560631287	chr13:47823998-47823999	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545519249	chr13:47824027-47824028	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563819700	chr13:47824050-47824051	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369920996	chr13:47824067-47824068	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574336043	chr13:47824072-47824073	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117116962	chr13:47824085-47824086	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562833764	chr13:47824099-47824100	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188666768	chr13:47824145-47824146	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571583245	chr13:47824183-47824184	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:134)

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
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Sinonasal adenocarcinoma	21360264	CNVD
Lung cancer	20668451	CNVD
Cancer	21278246	CNVD
Acute lymphoblastic leukemia	19129520	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21390271	CNVD
Glioblastoma multiforme	22286061	CNVD
infertile	18676362	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:47823000-47823200	Enhancers	Aorta	Aorta
2	chr13:47823000-47824400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr13:47823000-47827600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr13:47823200-47823400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:47823200-47825400	Weak transcription	Aorta	Aorta
6	chr13:47823200-47825600	Enhancers	NHDF-Ad	bronchial
7	chr13:47823400-47825000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:47823400-47825400	Enhancers	NHEK	skin
9	chr13:47823600-47824000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:47823800-47825000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:47824000-47824800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:47824000-47825000	Enhancers	Colon Smooth Muscle	Colon
13	chr13:47824400-47824600	Active TSS	Stomach Smooth Muscle	stomach
14	chr13:47824400-47824800	Enhancers	HMEC	breast
15	chr13:47824400-47825000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:47824400-47825000	Enhancers	NH-A	brain
17	chr13:47824400-47825000	Enhancers	Osteobl	bone
18	chr13:47824600-47824800	Enhancers	Rectal Smooth Muscle	rectum
19	chr13:47824600-47824800	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr13:47824600-47825000	Enhancers	Adipose Nuclei	Adipose
21	chr13:47824800-47830400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:47825000-47825400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:47825000-47825400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:47825000-47826800	Weak transcription	Osteobl	bone
25	chr13:47825000-47830400	Weak transcription	NH-A	brain
26	chr13:47825400-47825600	Enhancers	Aorta	Aorta
27	chr13:47825400-47825800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:47825400-47826200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:47825400-47830400	Weak transcription	NHEK	skin
30	chr13:47825600-47826400	Weak transcription	Aorta	Aorta
31	chr13:47825600-47826600	Weak transcription	NHDF-Ad	bronchial
32	chr13:47825800-47828400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr13:47826200-47828000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:47826400-47828000	Enhancers	Aorta	Aorta
35	chr13:47826600-47827200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr13:47826600-47827600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr13:47826600-47828000	Enhancers	NHDF-Ad	bronchial
38	chr13:47826800-47827400	Enhancers	Osteobl	bone
39	chr13:47827200-47830600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr13:47827400-47830600	Weak transcription	Osteobl	bone
41	chr13:47827600-47830400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr13:47827600-47832200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr13:47828000-47830200	Weak transcription	NHDF-Ad	bronchial
44	chr13:47828000-47830400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr13:47828400-47829400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr13:47829400-47833000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr13:47829600-47829800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:47830200-47831400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr13:47830200-47831600	Enhancers	NHDF-Ad	bronchial
50	chr13:47830400-47831200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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