Variant report

Variant	nsv900299
Chromosome Location	chr13:63969262-64005083
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	chr13:63976701..63978300-chr13:63983379..63985092,2	MCF-7	breast:
2	chr13:63976701..63978300-chr13:63983379..63985092,2	MCF-7	breast:

Extended variants
information (count: 966 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:966 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186299028	chr13:63971002-63971003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs118080681	chr13:63971008-63971009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547001418	chr13:63971034-63971035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377739323	chr13:63971043-63971044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542980950	chr13:63971044-63971045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544981132	chr13:63971074-63971075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371165228	chr13:63971118-63971119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191035425	chr13:63971119-63971120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146517757	chr13:63971120-63971121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7324269	chr13:63971126-63971127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182446686	chr13:63971134-63971135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141157479	chr13:63971141-63971142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76116771	chr13:63971167-63971168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564734067	chr13:63971209-63971210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144868662	chr13:63971245-63971246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550150911	chr13:63971259-63971260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370087657	chr13:63971291-63971292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374607650	chr13:63971320-63971321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540813962	chr13:63971392-63971393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188315495	chr13:63971407-63971408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191331859	chr13:63971424-63971425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111245858	chr13:63971459-63971460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565845835	chr13:63971470-63971471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201020938	chr13:63971474-63971475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139650455	chr13:63971476-63971477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539291250	chr13:63971485-63971486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187534914	chr13:63971501-63971502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112758021	chr13:63971558-63971559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145581356	chr13:63971559-63971560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536953198	chr13:63971599-63971600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377269046	chr13:63971616-63971617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192066508	chr13:63971618-63971619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148870067	chr13:63971623-63971624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370764092	chr13:63971639-63971640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143506625	chr13:63971649-63971650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577680601	chr13:63971664-63971665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546388954	chr13:63971745-63971746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9317310	chr13:63971750-63971751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7993158	chr13:63971752-63971753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544167901	chr13:63971769-63971770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368814192	chr13:63971792-63971793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147996974	chr13:63971800-63971801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73205469	chr13:63971805-63971806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184743940	chr13:63971899-63971900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566007369	chr13:63971902-63971903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534389185	chr13:63971906-63971907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533490593	chr13:63971918-63971919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188595716	chr13:63971939-63971940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551116849	chr13:63971986-63971987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539324819	chr13:63971997-63971998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63971000-63971200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:63971200-63978200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:63977800-63978400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:63978000-63978800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr13:63978200-63978400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:63978400-63978800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr13:63978400-63979000	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr13:63978400-63981800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:63978800-63982600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr13:63979000-63979200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr13:63980200-63981400	Enhancers	Fetal Lung	lung
12	chr13:63980800-63981000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:63981000-63982600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:63981400-63982400	Weak transcription	Fetal Lung	lung
15	chr13:63981800-63982600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:63982000-63984000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr13:63982200-63983600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr13:63982400-63982600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:63982400-63982600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:63982400-63982600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:63982400-63983000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr13:63982400-63983000	Enhancers	Fetal Lung	lung
23	chr13:63982400-63983200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr13:63982400-63983200	Enhancers	Rectal Smooth Muscle	rectum
25	chr13:63982400-63983400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr13:63982400-63983600	Enhancers	Osteobl	bone
27	chr13:63982400-63983800	Active TSS	Fetal Brain Male	brain
28	chr13:63982600-63982800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:63982600-63983000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr13:63982600-63983000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr13:63982600-63983200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr13:63982600-63983200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr13:63982600-63983200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:63982600-63983200	Enhancers	Adipose Nuclei	Adipose
35	chr13:63982600-63983400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr13:63982600-63983600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:63982600-63984200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr13:63982800-63983200	Enhancers	Fetal Stomach	stomach
39	chr13:63982800-63983200	Active TSS	NHDF-Ad	bronchial
40	chr13:63982800-63983800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:63983000-63983200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr13:63983200-63983400	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr13:63983200-63984000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr13:63983200-63984200	Weak transcription	Adipose Nuclei	Adipose
45	chr13:63983200-63984200	Weak transcription	NHDF-Ad	bronchial
46	chr13:63983200-63984800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr13:63983400-63988800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr13:63984000-63984200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr13:63984200-63984400	Enhancers	Adipose Nuclei	Adipose
50	chr13:63984200-63984800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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