Variant report

Variant	nsv900065
Chromosome Location	chr13:48106733-48215874
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:47405508..47406415-chr13:48172351..48173231,3	MCF-7	breast:
2	chr13:47547831..47548348-chr13:48123339..48124015,2	MCF-7	breast:
3	chr13:47405867..47406372-chr13:48172194..48172878,2	K562	blood:
4	chr13:47405643..47406579-chr13:48172211..48172875,2	MCF-7	breast:
5	chr13:47479207..47479962-chr13:48172418..48173157,2	MCF-7	breast:

Extended variants
information (count: 1395 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:1395 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7324575	chr13:48113256-48113257	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149737451	chr13:48113271-48113272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554511197	chr13:48113341-48113342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551964055	chr13:48113392-48113393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1575895	chr13:48113406-48113407	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs543506846	chr13:48113407-48113408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186184622	chr13:48113457-48113458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145711939	chr13:48113459-48113460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572478565	chr13:48113480-48113481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190648736	chr13:48113482-48113483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148918903	chr13:48113489-48113490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530380475	chr13:48113491-48113492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542548329	chr13:48113512-48113513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7329677	chr13:48113517-48113518	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs530573340	chr13:48113576-48113577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371671559	chr13:48113595-48113596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143652510	chr13:48113599-48113600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570562219	chr13:48113606-48113607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1575896	chr13:48113611-48113612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368485134	chr13:48113669-48113670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546361677	chr13:48113743-48113744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76872513	chr13:48113792-48113793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146592199	chr13:48113915-48113916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115024181	chr13:48113916-48113917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114072219	chr13:48113917-48113918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141287078	chr13:48113961-48113962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181543458	chr13:48113993-48113994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577238129	chr13:48113994-48113995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145127374	chr13:48114018-48114019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117744562	chr13:48114019-48114020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575089030	chr13:48114049-48114050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76329078	chr13:48114067-48114068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1326487	chr13:48114069-48114070	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs138934278	chr13:48114073-48114074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115866768	chr13:48114110-48114111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185475457	chr13:48114145-48114146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528155517	chr13:48114146-48114147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546302241	chr13:48114202-48114203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531371467	chr13:48114236-48114237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535482362	chr13:48114237-48114238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141588160	chr13:48114251-48114252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150471718	chr13:48114257-48114258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544914298	chr13:48114294-48114295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550452429	chr13:48114298-48114299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569158642	chr13:48114353-48114354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564792632	chr13:48114457-48114458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539372048	chr13:48114483-48114484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552507836	chr13:48114525-48114526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75140905	chr13:48114572-48114573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138321837	chr13:48114633-48114634	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:128)

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
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48113200-48113800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:48113200-48114000	Enhancers	Fetal Heart	heart
3	chr13:48113400-48114200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr13:48113600-48113800	Enhancers	HSMMtube	muscle
5	chr13:48114200-48114600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr13:48114600-48114800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr13:48114800-48120200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr13:48118000-48120400	Enhancers	Right Atrium	heart
9	chr13:48118000-48121000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr13:48118800-48119000	Enhancers	Left Ventricle	heart
11	chr13:48118800-48120600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:48119200-48120000	Weak transcription	Left Ventricle	heart
13	chr13:48119200-48120800	Enhancers	Adipose Nuclei	Adipose
14	chr13:48119200-48120800	Enhancers	Rectal Smooth Muscle	rectum
15	chr13:48119200-48120800	Enhancers	Stomach Smooth Muscle	stomach
16	chr13:48119200-48123000	Enhancers	Fetal Stomach	stomach
17	chr13:48119400-48119800	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr13:48119400-48121000	Enhancers	Fetal Muscle Leg	muscle
19	chr13:48119400-48121400	Enhancers	Colon Smooth Muscle	Colon
20	chr13:48119800-48120200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr13:48119800-48120800	Enhancers	Fetal Kidney	kidney
22	chr13:48120000-48120200	Enhancers	Left Ventricle	heart
23	chr13:48120000-48120400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr13:48120200-48120800	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr13:48120200-48120800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr13:48120400-48121600	Weak transcription	Right Atrium	heart
27	chr13:48120800-48121200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr13:48120800-48121800	Weak transcription	Fetal Kidney	kidney
29	chr13:48121200-48121600	Enhancers	Rectal Smooth Muscle	rectum
30	chr13:48121400-48122600	Weak transcription	Colon Smooth Muscle	Colon
31	chr13:48121600-48121800	Enhancers	Right Atrium	heart
32	chr13:48121800-48122600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr13:48121800-48122800	Enhancers	Fetal Kidney	kidney
34	chr13:48122000-48122200	Enhancers	Left Ventricle	heart
35	chr13:48122000-48123200	Enhancers	Liver	Liver
36	chr13:48122600-48123000	Enhancers	Colon Smooth Muscle	Colon
37	chr13:48122600-48123000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr13:48122600-48126600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:48126600-48126800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:48127000-48128200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr13:48127200-48128200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr13:48127200-48128200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr13:48127200-48128200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr13:48127400-48128000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr13:48127400-48128000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr13:48127400-48128200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr13:48127400-48128200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr13:48127600-48128000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr13:48137800-48138000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr13:48137800-48138600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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