Variant report

Variant	nsv819200
Chromosome Location	chr13:50272099-50274553
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	chr13:50272679..50274281-chr13:50397639..50400359,2	MCF-7	breast:
2	chr13:50265861..50268328-chr13:50270535..50273310,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location
1	KPNA3	hsa-miR-16-5p	chr13:50273471-50273491
2	KPNA3	hsa-miR-16-5p	chr13:50273476-50273470
3	KPNA3	hsa-miR-16-5p	chr13:50273626-50273645

Extended variants
information (count: 65 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80123464	chr13:50272102-50272103	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs74519159	chr13:50272172-50272173	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs368749144	chr13:50272181-50272182	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs12585285	chr13:50272183-50272184	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs371642878	chr13:50272207-50272208	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374870634	chr13:50272227-50272228	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557981922	chr13:50272237-50272238	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529838500	chr13:50272300-50272301	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544764309	chr13:50272326-50272327	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573216091	chr13:50272359-50272360	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540519190	chr13:50272404-50272405	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184681532	chr13:50272416-50272417	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112133229	chr13:50272478-50272479	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138241556	chr13:50272491-50272492	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544158846	chr13:50272498-50272499	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149632896	chr13:50272527-50272528	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189493680	chr13:50272532-50272533	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532994587	chr13:50272612-50272613	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549783683	chr13:50272624-50272625	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191833762	chr13:50272682-50272683	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184224990	chr13:50272709-50272710	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs60153445	chr13:50272747-50272748	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs569701055	chr13:50272784-50272785	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546913207	chr13:50272804-50272805	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568383285	chr13:50272806-50272807	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535493496	chr13:50272807-50272808	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550907536	chr13:50272820-50272821	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569300069	chr13:50272837-50272838	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539914412	chr13:50273000-50273001	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558018980	chr13:50273014-50273015	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573053731	chr13:50273040-50273041	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532829097	chr13:50273043-50273044	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555715816	chr13:50273087-50273088	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573837642	chr13:50273104-50273105	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553158399	chr13:50273139-50273140	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543866578	chr13:50273160-50273161	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12584707	chr13:50273171-50273172	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs377539219	chr13:50273180-50273181	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577703744	chr13:50273184-50273185	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115888477	chr13:50273238-50273239	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371279000	chr13:50273255-50273256	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564366524	chr13:50273348-50273349	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73192683	chr13:50273356-50273357	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540388643	chr13:50273371-50273372	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562049378	chr13:50273410-50273411	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373852926	chr13:50273485-50273486	Weak transcription Strong transcription Enhancers Genic enhancers	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
47	rs529588693	chr13:50273491-50273492	Weak transcription Strong transcription Enhancers Genic enhancers	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
48	rs3720	chr13:50273603-50273604	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs373810281	chr13:50273741-50273742	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569222159	chr13:50273802-50273803	Weak transcription Strong transcription Enhancers Genic enhancers	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
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
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
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Sezary syndrome	18413736	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21990379	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50266000-50273000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:50266000-50278200	Weak transcription	Lung	lung
3	chr13:50266000-50284200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:50266200-50272200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:50266200-50272200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr13:50266200-50272200	Weak transcription	Fetal Intestine Large	intestine
7	chr13:50266200-50272200	Weak transcription	Fetal Stomach	stomach
8	chr13:50266200-50272200	Weak transcription	Left Ventricle	heart
9	chr13:50266200-50272200	Weak transcription	NH-A	brain
10	chr13:50266200-50272600	Weak transcription	Fetal Intestine Small	intestine
11	chr13:50266200-50272800	Weak transcription	Aorta	Aorta
12	chr13:50266200-50272800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr13:50266200-50273000	Weak transcription	Adipose Nuclei	Adipose
14	chr13:50266200-50273000	Weak transcription	Ovary	ovary
15	chr13:50266200-50274200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr13:50266200-50274400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr13:50266200-50275000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr13:50266200-50275000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr13:50266200-50275000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr13:50266200-50275000	Weak transcription	Fetal Brain Male	brain
21	chr13:50266200-50275000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr13:50266200-50275000	Weak transcription	Thymus	Thymus
23	chr13:50266200-50275000	Weak transcription	GM12878-XiMat	blood
24	chr13:50266200-50275000	Weak transcription	Hela-S3	cervix
25	chr13:50266200-50275000	Weak transcription	NHDF-Ad	bronchial
26	chr13:50266200-50275200	Weak transcription	Brain Hippocampus Middle	brain
27	chr13:50266200-50275200	Weak transcription	HSMMtube	muscle
28	chr13:50266200-50275400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr13:50266200-50275400	Weak transcription	Brain Substantia Nigra	brain
30	chr13:50266200-50275400	Weak transcription	Fetal Kidney	kidney
31	chr13:50266200-50275400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr13:50266200-50275400	Weak transcription	Right Ventricle	heart
33	chr13:50266200-50275400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr13:50266200-50275600	Weak transcription	Fetal Lung	lung
35	chr13:50266200-50279200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr13:50266200-50279400	Weak transcription	Brain Angular Gyrus	brain
37	chr13:50266200-50279400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr13:50266200-50282200	Weak transcription	Brain Germinal Matrix	brain
39	chr13:50266200-50285600	Weak transcription	NHLF	lung
40	chr13:50266200-50286000	Weak transcription	Psoas Muscle	Psoas
41	chr13:50266200-50289400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr13:50266200-50289600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr13:50266200-50295200	Weak transcription	Spleen	Spleen
44	chr13:50266200-50296000	Weak transcription	K562	blood
45	chr13:50266200-50298600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr13:50266200-50298800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr13:50266200-50307800	Weak transcription	Gastric	stomach
48	chr13:50266200-50316000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr13:50266400-50272200	Weak transcription	Primary T cells from cord blood	blood
50	chr13:50266400-50272200	Weak transcription	Fetal Brain Female	brain

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