Variant report

Variant	nsv561907
Chromosome Location	chr13:63982375-64005083
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:

Extended variants
information (count: 504 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9570860	chr13:63982375-63982376	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552750067	chr13:63982400-63982401	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs376007149	chr13:63982439-63982440	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs570614211	chr13:63982474-63982475	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs538516886	chr13:63982480-63982481	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs537599472	chr13:63982491-63982492	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs9539735	chr13:63982501-63982502	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs568232655	chr13:63982523-63982524	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs112157079	chr13:63982537-63982538	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs186476852	chr13:63982633-63982634	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs12872055	chr13:63982647-63982648	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs369477860	chr13:63982671-63982672	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs7320488	chr13:63982692-63982693	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs61523874	chr13:63982720-63982721	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs539138236	chr13:63982753-63982754	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs557529412	chr13:63982817-63982818	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs79259865	chr13:63982828-63982829	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs76915337	chr13:63982829-63982830	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs149543620	chr13:63982869-63982870	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs9539736	chr13:63982894-63982895	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs474704	chr13:63982906-63982907	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs575016462	chr13:63982913-63982914	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs537876507	chr13:63982931-63982932	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs645434	chr13:63982948-63982949	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs645430	chr13:63982952-63982953	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs35359025	chr13:63982969-63982970	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs552609683	chr13:63982973-63982974	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs553204745	chr13:63983015-63983016	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs191165728	chr13:63983023-63983024	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs573430319	chr13:63983045-63983046	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs147211384	chr13:63983156-63983157	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs549698297	chr13:63983159-63983160	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs568274792	chr13:63983237-63983238	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs535360128	chr13:63983246-63983247	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs183294545	chr13:63983259-63983260	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs186978712	chr13:63983260-63983261	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs7323155	chr13:63983266-63983267	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs189818101	chr13:63983280-63983281	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs183053085	chr13:63983347-63983348	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs537184917	chr13:63983356-63983357	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs556455592	chr13:63983372-63983373	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs643253	chr13:63983425-63983426	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542530032	chr13:63983427-63983428	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs188086596	chr13:63983516-63983517	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs140521612	chr13:63983533-63983534	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs545845670	chr13:63983547-63983548	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs192948003	chr13:63983589-63983590	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs371180563	chr13:63983606-63983607	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs35603854	chr13:63983698-63983699	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs531693670	chr13:63983707-63983708	Weak transcription Enhancers Active TSS	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63978800-63982600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr13:63981000-63982600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:63981400-63982400	Weak transcription	Fetal Lung	lung
4	chr13:63981800-63982600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:63982000-63984000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr13:63982200-63983600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr13:63982400-63982600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:63982400-63982600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:63982400-63982600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:63982400-63983000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr13:63982400-63983000	Enhancers	Fetal Lung	lung
12	chr13:63982400-63983200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr13:63982400-63983200	Enhancers	Rectal Smooth Muscle	rectum
14	chr13:63982400-63983400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr13:63982400-63983600	Enhancers	Osteobl	bone
16	chr13:63982400-63983800	Active TSS	Fetal Brain Male	brain
17	chr13:63982600-63982800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:63982600-63983000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:63982600-63983000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr13:63982600-63983200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:63982600-63983200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:63982600-63983200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:63982600-63983200	Enhancers	Adipose Nuclei	Adipose
24	chr13:63982600-63983400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr13:63982600-63983600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:63982600-63984200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr13:63982800-63983200	Enhancers	Fetal Stomach	stomach
28	chr13:63982800-63983200	Active TSS	NHDF-Ad	bronchial
29	chr13:63982800-63983800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:63983000-63983200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr13:63983200-63983400	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr13:63983200-63984000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr13:63983200-63984200	Weak transcription	Adipose Nuclei	Adipose
34	chr13:63983200-63984200	Weak transcription	NHDF-Ad	bronchial
35	chr13:63983200-63984800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr13:63983400-63988800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr13:63984000-63984200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:63984200-63984400	Enhancers	Adipose Nuclei	Adipose
39	chr13:63984200-63984800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr13:63984200-63984800	Enhancers	NHDF-Ad	bronchial
41	chr13:63988800-63989000	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr13:63992400-63992600	Enhancers	HMEC	breast
43	chr13:63992400-63992800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr13:63998600-63999000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr13:63998600-63999400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr13:63998800-63999600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr13:63999200-63999600	Enhancers	Osteobl	bone
48	chr13:63999400-63999800	Enhancers	HMEC	breast
49	chr13:64001000-64001800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr13:64002600-64010200	Weak transcription	NHDF-Ad	bronchial

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