Variant report

Variant	nsv900291
Chromosome Location	chr13:63954761-64008285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:63955263..63957196-chr13:63958888..63961483,2	MCF-7	breast:
2	chr13:63976701..63978300-chr13:63983379..63985092,2	MCF-7	breast:
3	chr13:63976701..63978300-chr13:63983379..63985092,2	MCF-7	breast:
4	chr13:63955263..63957196-chr13:63958888..63961483,2	MCF-7	breast:

Extended variants
information (count: 1201 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1201 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9539725	chr13:63954761-63954762	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548046548	chr13:63954833-63954834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150573902	chr13:63954840-63954841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369789088	chr13:63954856-63954857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372482580	chr13:63954859-63954860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539217073	chr13:63954900-63954901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567276765	chr13:63954903-63954904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189326102	chr13:63954904-63954905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529780082	chr13:63954930-63954931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61594865	chr13:63954937-63954938	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs537498600	chr13:63954939-63954940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565794873	chr13:63954949-63954950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534711550	chr13:63954951-63954952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35184679	chr13:63954952-63954953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs202015702	chr13:63954957-63954958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369486475	chr13:63954970-63954971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139561692	chr13:63954973-63954974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567781135	chr13:63954979-63954980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149700246	chr13:63954981-63954982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551585519	chr13:63955007-63955008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17088276	chr13:63955039-63955040	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs577415784	chr13:63955040-63955041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544860017	chr13:63955106-63955107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145498334	chr13:63955115-63955116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139111257	chr13:63955250-63955251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542637871	chr13:63955310-63955311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560807437	chr13:63955328-63955329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76511632	chr13:63955369-63955370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540353203	chr13:63955379-63955380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78833750	chr13:63955382-63955383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533576752	chr13:63955397-63955398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552099247	chr13:63955416-63955417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574470353	chr13:63955450-63955451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547838621	chr13:63955460-63955461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112423777	chr13:63955461-63955462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564036814	chr13:63955464-63955465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs180702576	chr13:63955487-63955488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143961540	chr13:63955489-63955490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs17088279	chr13:63955566-63955567	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs146635934	chr13:63955570-63955571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536981545	chr13:63955581-63955582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571098940	chr13:63955630-63955631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538495744	chr13:63955661-63955662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556819156	chr13:63955694-63955695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186371953	chr13:63955714-63955715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536173801	chr13:63955734-63955735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554522054	chr13:63955736-63955737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572755239	chr13:63955795-63955796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377554288	chr13:63955805-63955806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189744267	chr13:63955890-63955891	Enhancers	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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63954400-63956000	Enhancers	Dnd41	blood
2	chr13:63955200-63956200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr13:63964000-63964400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:63971000-63971200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:63971200-63978200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:63977800-63978400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:63978000-63978800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr13:63978200-63978400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:63978400-63978800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr13:63978400-63979000	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr13:63978400-63981800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:63978800-63982600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr13:63979000-63979200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr13:63980200-63981400	Enhancers	Fetal Lung	lung
15	chr13:63980800-63981000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:63981000-63982600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:63981400-63982400	Weak transcription	Fetal Lung	lung
18	chr13:63981800-63982600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:63982000-63984000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr13:63982200-63983600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr13:63982400-63982600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr13:63982400-63982600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr13:63982400-63982600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:63982400-63983000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr13:63982400-63983000	Enhancers	Fetal Lung	lung
26	chr13:63982400-63983200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr13:63982400-63983200	Enhancers	Rectal Smooth Muscle	rectum
28	chr13:63982400-63983400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr13:63982400-63983600	Enhancers	Osteobl	bone
30	chr13:63982400-63983800	Active TSS	Fetal Brain Male	brain
31	chr13:63982600-63982800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:63982600-63983000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr13:63982600-63983000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr13:63982600-63983200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr13:63982600-63983200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr13:63982600-63983200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr13:63982600-63983200	Enhancers	Adipose Nuclei	Adipose
38	chr13:63982600-63983400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr13:63982600-63983600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr13:63982600-63984200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr13:63982800-63983200	Enhancers	Fetal Stomach	stomach
42	chr13:63982800-63983200	Active TSS	NHDF-Ad	bronchial
43	chr13:63982800-63983800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:63983000-63983200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr13:63983200-63983400	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr13:63983200-63984000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr13:63983200-63984200	Weak transcription	Adipose Nuclei	Adipose
48	chr13:63983200-63984200	Weak transcription	NHDF-Ad	bronchial
49	chr13:63983200-63984800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr13:63983400-63988800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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