Variant report

Variant	nsv1039986
Chromosome Location	chr13:48081565-48119960
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	chr13:48082466..48084126-chr13:48084171..48087051,2	MCF-7	breast:
2	chr13:48082466..48084126-chr13:48084171..48087051,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT15-3	chr13:48096508-48096529	XLOC_010386
2	lnc-NUDT15-3	chr13:48103786-48104202	XLOC_010386

Variant related genes	Relation type
CSDA	miRNA target sites
CRY2	miRNA target sites

Extended variants
information (count: 885 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:885 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7318476	chr13:48081565-48081566	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190121008	chr13:48081571-48081572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17070234	chr13:48081605-48081606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181792292	chr13:48081640-48081641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535422554	chr13:48081641-48081642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186521991	chr13:48081661-48081662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556291918	chr13:48081675-48081676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140433047	chr13:48081697-48081698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188488568	chr13:48081698-48081699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555446227	chr13:48081710-48081711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564537769	chr13:48081761-48081762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575332536	chr13:48081804-48081805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74073876	chr13:48081832-48081833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547039650	chr13:48081848-48081849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376355603	chr13:48081851-48081852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529465406	chr13:48081855-48081856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551244987	chr13:48081937-48081938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142744950	chr13:48081939-48081940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533702844	chr13:48081948-48081949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535547319	chr13:48081962-48081963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73183848	chr13:48081979-48081980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs180905248	chr13:48081983-48081984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185168329	chr13:48081999-48082000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377178258	chr13:48082003-48082004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368373241	chr13:48082060-48082061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567026257	chr13:48082070-48082071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572031835	chr13:48082089-48082090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537644111	chr13:48082163-48082164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555979077	chr13:48082182-48082183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4130147	chr13:48082251-48082252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs528103628	chr13:48082306-48082307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541798784	chr13:48082328-48082329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201125769	chr13:48082333-48082334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191108502	chr13:48082359-48082360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371536003	chr13:48082364-48082365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573152573	chr13:48082397-48082398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144557075	chr13:48082411-48082412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386770746	chr13:48082421-48082422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs5002847	chr13:48082422-48082423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs183997360	chr13:48082423-48082424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544804346	chr13:48082424-48082425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371342718	chr13:48082519-48082520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187363559	chr13:48082624-48082625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533589792	chr13:48082635-48082636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191786145	chr13:48082638-48082639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148448388	chr13:48082665-48082666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564498405	chr13:48082669-48082670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4438199	chr13:48082676-48082677	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs142695072	chr13:48082701-48082702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567010088	chr13:48082735-48082736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48072800-48082600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr13:48074400-48082800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:48074800-48082600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:48074800-48082600	Weak transcription	HMEC	breast
5	chr13:48082600-48083200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:48082600-48083200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr13:48082600-48083400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr13:48082600-48083400	Enhancers	HMEC	breast
9	chr13:48082600-48083400	Enhancers	NHEK	skin
10	chr13:48082800-48083400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr13:48083400-48085000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr13:48085000-48085800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr13:48086600-48087400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:48087200-48087400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:48087400-48089600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:48089600-48089800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:48089800-48097000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:48093600-48094400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr13:48093600-48094400	Enhancers	NHDF-Ad	bronchial
20	chr13:48093800-48094000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:48093800-48094400	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr13:48093800-48094600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:48094000-48094400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:48094000-48094400	Enhancers	Adipose Nuclei	Adipose
25	chr13:48094400-48094600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:48096200-48096600	Enhancers	Fetal Heart	heart
27	chr13:48097000-48097200	Enhancers	Right Atrium	heart
28	chr13:48098000-48098200	Enhancers	Right Atrium	heart
29	chr13:48098000-48099000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr13:48098400-48101000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr13:48098800-48099000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:48098800-48099400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr13:48101800-48102200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr13:48113200-48113800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr13:48113200-48114000	Enhancers	Fetal Heart	heart
36	chr13:48113400-48114200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr13:48113600-48113800	Enhancers	HSMMtube	muscle
38	chr13:48114200-48114600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr13:48114600-48114800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr13:48114800-48120200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr13:48118000-48120400	Enhancers	Right Atrium	heart
42	chr13:48118000-48121000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr13:48118800-48119000	Enhancers	Left Ventricle	heart
44	chr13:48118800-48120600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr13:48119200-48120000	Weak transcription	Left Ventricle	heart
46	chr13:48119200-48120800	Enhancers	Adipose Nuclei	Adipose
47	chr13:48119200-48120800	Enhancers	Rectal Smooth Muscle	rectum
48	chr13:48119200-48120800	Enhancers	Stomach Smooth Muscle	stomach
49	chr13:48119200-48123000	Enhancers	Fetal Stomach	stomach
50	chr13:48119400-48119800	Enhancers	Duodenum Smooth Muscle	Duodenum

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