Variant report

Variant	nsv1046560
Chromosome Location	chr13:47826023-47854425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:47847121..47849264-chr13:47857917..47860814,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRCH1-5	chr13:47840097-47840780	NONHSAT033677
2	lnc-LRCH1-5	chr13:47844315-47844465	NONHSAT033677
3	lnc-LRCH1-5	chr13:47844316-47844449	XLOC_010385

Extended variants
information (count: 473 )
Associated
traits (count: 134 )

Variant overlapped rSNPs/rCNVs (count:473 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552070583	chr13:47826029-47826030	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560692440	chr13:47826051-47826052	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201776492	chr13:47826052-47826053	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190675735	chr13:47826058-47826059	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549488942	chr13:47826137-47826138	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6561362	chr13:47826159-47826160	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs534561388	chr13:47826178-47826179	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73178170	chr13:47826188-47826189	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs549909690	chr13:47826198-47826199	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571267058	chr13:47826213-47826214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539362494	chr13:47826222-47826223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183332645	chr13:47826253-47826254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572736104	chr13:47826255-47826256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138815611	chr13:47826268-47826269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555485184	chr13:47826279-47826280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573658609	chr13:47826312-47826313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115994952	chr13:47826316-47826317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376091915	chr13:47826399-47826400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370739253	chr13:47826403-47826404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562485916	chr13:47826429-47826430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553023902	chr13:47826437-47826438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149364935	chr13:47826441-47826442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147483001	chr13:47826447-47826448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187894761	chr13:47826448-47826449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75770777	chr13:47826476-47826477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75787304	chr13:47826477-47826478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527924424	chr13:47826490-47826491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535337051	chr13:47826519-47826520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549304678	chr13:47826581-47826582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138500439	chr13:47826589-47826590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577813370	chr13:47826592-47826593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531721780	chr13:47826642-47826643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550213438	chr13:47826652-47826653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548585995	chr13:47826657-47826658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568547471	chr13:47826668-47826669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192417788	chr13:47826703-47826704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537444176	chr13:47826759-47826760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143968868	chr13:47826770-47826771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557606876	chr13:47826784-47826785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184514164	chr13:47826785-47826786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538052860	chr13:47826915-47826916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534047408	chr13:47826927-47826928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147331641	chr13:47827024-47827025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573748361	chr13:47827026-47827027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188348528	chr13:47827102-47827103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545297154	chr13:47827151-47827152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563328393	chr13:47827154-47827155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556273722	chr13:47827202-47827203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192935574	chr13:47827225-47827226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7985155	chr13:47827489-47827490	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:47823000-47827600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr13:47824800-47830400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:47825000-47826800	Weak transcription	Osteobl	bone
4	chr13:47825000-47830400	Weak transcription	NH-A	brain
5	chr13:47825400-47826200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:47825400-47830400	Weak transcription	NHEK	skin
7	chr13:47825600-47826400	Weak transcription	Aorta	Aorta
8	chr13:47825600-47826600	Weak transcription	NHDF-Ad	bronchial
9	chr13:47825800-47828400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:47826200-47828000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:47826400-47828000	Enhancers	Aorta	Aorta
12	chr13:47826600-47827200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:47826600-47827600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr13:47826600-47828000	Enhancers	NHDF-Ad	bronchial
15	chr13:47826800-47827400	Enhancers	Osteobl	bone
16	chr13:47827200-47830600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:47827400-47830600	Weak transcription	Osteobl	bone
18	chr13:47827600-47830400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr13:47827600-47832200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr13:47828000-47830200	Weak transcription	NHDF-Ad	bronchial
21	chr13:47828000-47830400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:47828400-47829400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:47829400-47833000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:47829600-47829800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:47830200-47831400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:47830200-47831600	Enhancers	NHDF-Ad	bronchial
27	chr13:47830400-47831200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr13:47830400-47831400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:47830400-47831400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr13:47830400-47831400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr13:47830400-47831400	Enhancers	HMEC	breast
32	chr13:47830400-47831400	Enhancers	NH-A	brain
33	chr13:47830400-47831400	Enhancers	NHEK	skin
34	chr13:47830600-47831200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr13:47830600-47831200	Enhancers	Osteobl	bone
36	chr13:47830800-47831200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:47831000-47831200	Enhancers	HSMMtube	muscle
38	chr13:47832200-47834000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr13:47846600-47846800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr13:47847600-47848200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr13:47850800-47852000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:47851000-47851200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr13:47852000-47853400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr13:47853400-47854800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr13:47853600-47854800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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