Variant report

Variant	nsv562628
Chromosome Location	chr13:87766113-87800578
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:87776715..87778744-chr13:87780725..87783361,2	MCF-7	breast:
2	chr13:87776715..87778744-chr13:87780725..87783361,2	MCF-7	breast:
3	chr13:87745697..87747842-chr13:87770397..87772892,2	MCF-7	breast:

Extended variants
information (count: 1081 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1081 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543020216	chr13:87770423-87770424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561094003	chr13:87770483-87770484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528608147	chr13:87770529-87770530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575184786	chr13:87770622-87770623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373948143	chr13:87770623-87770624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546757009	chr13:87770626-87770627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189981303	chr13:87770649-87770650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539932586	chr13:87770666-87770667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117728965	chr13:87770681-87770682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182614553	chr13:87770721-87770722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369843597	chr13:87770731-87770732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35718518	chr13:87770763-87770764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569968218	chr13:87770812-87770813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536907651	chr13:87770844-87770845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531968036	chr13:87770873-87770874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186474444	chr13:87770887-87770888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567120258	chr13:87770890-87770891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73561054	chr13:87770943-87770944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs552632815	chr13:87770944-87770945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369920520	chr13:87770947-87770948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531142484	chr13:87770966-87770967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73561055	chr13:87770982-87770983	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs4409956	chr13:87771025-87771026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs575912405	chr13:87771089-87771090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191320824	chr13:87771109-87771110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561363102	chr13:87771110-87771111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567837420	chr13:87771140-87771141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532124908	chr13:87771173-87771174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4606575	chr13:87771199-87771200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs58013563	chr13:87771249-87771250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565373577	chr13:87771266-87771267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532602946	chr13:87771281-87771282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4402414	chr13:87771286-87771287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs150226124	chr13:87771296-87771297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79027954	chr13:87771331-87771332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548982134	chr13:87771343-87771344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567286535	chr13:87771357-87771358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4270028	chr13:87771361-87771362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs546143864	chr13:87771410-87771411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375794160	chr13:87771426-87771427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370016926	chr13:87771434-87771435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184671680	chr13:87771484-87771485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115143532	chr13:87771537-87771538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538609440	chr13:87771547-87771548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557156737	chr13:87771606-87771607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9524654	chr13:87771611-87771612	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188963284	chr13:87771646-87771647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554955735	chr13:87771711-87771712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145803841	chr13:87771726-87771727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540633381	chr13:87771782-87771783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87770400-87781000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:87771400-87772000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr13:87771400-87772400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr13:87771400-87773200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr13:87771600-87771800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr13:87772000-87774200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr13:87772200-87772600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:87772200-87776800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:87772400-87774200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr13:87772600-87773000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:87773000-87773200	Enhancers	Hela-S3	cervix
12	chr13:87773000-87773600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:87773000-87776800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:87773000-87776800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr13:87773200-87774200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr13:87773400-87775000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr13:87773400-87775400	Weak transcription	Hela-S3	cervix
18	chr13:87773600-87775000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:87774200-87774400	Enhancers	HSMMtube	muscle
20	chr13:87774200-87774800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr13:87774200-87776400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr13:87774200-87776800	Enhancers	NH-A	brain
23	chr13:87774200-87777200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr13:87774200-87777200	Enhancers	HSMM	muscle
25	chr13:87774400-87774600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:87774400-87775200	Weak transcription	HSMMtube	muscle
27	chr13:87774400-87777400	Enhancers	HMEC	breast
28	chr13:87774600-87775400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:87774800-87775200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr13:87774800-87775600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr13:87775000-87775200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr13:87775000-87775600	Enhancers	Primary hematopoietic stem cells	blood
33	chr13:87775000-87776400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:87775200-87775400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr13:87775200-87775400	Enhancers	HSMMtube	muscle
36	chr13:87775200-87776200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr13:87775200-87776400	Enhancers	Fetal Heart	heart
38	chr13:87775200-87777400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr13:87775400-87776200	Weak transcription	HSMMtube	muscle
40	chr13:87775400-87776400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr13:87775400-87776600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:87775400-87777200	Enhancers	Hela-S3	cervix
43	chr13:87775600-87776600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr13:87775600-87776800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr13:87776200-87776400	Flanking Active TSS	HSMMtube	muscle
46	chr13:87776200-87776600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr13:87776200-87776600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr13:87776200-87777000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr13:87776200-87777000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr13:87776200-87777200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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