Variant report

Variant	nsv612050
Chromosome Location	chr8:119684863-119723897
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:108959423..108959964-chr8:119710887..119711808,2	MCF-7	breast:
2	chr8:119686906..119688437-chr8:119689298..119692075,2	K562	blood:
3	chr17:57929154..57930703-chr8:119691999..119694960,2	MCF-7	breast:
4	chr8:119697639..119699212-chr8:119701195..119702893,2	MCF-7	breast:
5	chr8:119697639..119699212-chr8:119701195..119702893,2	MCF-7	breast:
6	chr8:119686906..119688437-chr8:119689298..119692075,2	K562	blood:

Extended variants
information (count: 466 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371857025	chr8:119685242-119685243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143094227	chr8:119685266-119685267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548283062	chr8:119685267-119685268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs55839253	chr8:119685279-119685280	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs112928462	chr8:119685284-119685285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551352870	chr8:119685310-119685311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566486377	chr8:119685319-119685320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13260428	chr8:119685381-119685382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148186050	chr8:119685387-119685388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567481284	chr8:119685391-119685392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116973555	chr8:119685434-119685435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1001899	chr8:119685449-119685450	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs550866231	chr8:119685450-119685451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182470535	chr8:119685457-119685458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539555416	chr8:119685490-119685491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563439138	chr8:119685499-119685500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140107192	chr8:119685556-119685557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532038937	chr8:119685558-119685559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570675962	chr8:119685559-119685560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572897755	chr8:119685603-119685604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13438904	chr8:119685652-119685653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556011239	chr8:119685658-119685659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187316139	chr8:119685669-119685670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544763467	chr8:119685693-119685694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146999038	chr8:119685702-119685703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138207688	chr8:119685757-119685758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565512317	chr8:119685835-119685836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560337628	chr8:119685836-119685837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535492455	chr8:119685857-119685858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576409803	chr8:119685939-119685940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527258523	chr8:119685940-119685941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370065511	chr8:119685941-119685942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112948536	chr8:119685943-119685944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555070022	chr8:119685952-119685953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371849047	chr8:119685963-119685964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190966595	chr8:119685964-119685965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143781006	chr8:119685988-119685989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574864067	chr8:119686014-119686015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531507562	chr8:119686025-119686026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182725230	chr8:119686043-119686044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373580753	chr8:119686051-119686052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571101102	chr8:119686054-119686055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538491702	chr8:119686066-119686067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557806761	chr8:119686078-119686079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72680308	chr8:119686133-119686134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76889998	chr8:119686135-119686136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76905506	chr8:119686152-119686153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574229022	chr8:119686186-119686187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538168644	chr8:119686221-119686222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577054354	chr8:119686258-119686259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:143)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Oral squamous cell carcinoma	21853135	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119685200-119685600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr8:119685200-119685800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:119685800-119686000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:119686000-119686200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:119686000-119686400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr8:119686000-119686400	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr8:119686000-119687000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:119686000-119687200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:119686200-119687000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:119687000-119688600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:119687000-119688600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:119687200-119687600	Enhancers	Fetal Lung	lung
13	chr8:119687600-119688000	Weak transcription	Fetal Lung	lung
14	chr8:119688000-119689600	Enhancers	Fetal Lung	lung
15	chr8:119688400-119688600	Enhancers	NHDF-Ad	bronchial
16	chr8:119697400-119697800	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr8:119697600-119698000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr8:119697600-119700200	Weak transcription	Fetal Lung	lung
19	chr8:119700200-119700600	Enhancers	Fetal Lung	lung
20	chr8:119700400-119700600	Bivalent Enhancer	NHDF-Ad	bronchial
21	chr8:119700600-119700800	Weak transcription	Fetal Lung	lung
22	chr8:119700600-119701000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:119700800-119701200	Enhancers	Fetal Lung	lung
24	chr8:119701000-119702000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:119701800-119702600	Enhancers	HUVEC	blood vessel
26	chr8:119702000-119702400	Enhancers	Gastric	stomach
27	chr8:119702000-119703400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:119702400-119702800	Enhancers	Stomach Mucosa	stomach
29	chr8:119705000-119705400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:119705400-119705600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:119710200-119711600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:119710600-119710800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:119710600-119711200	Enhancers	Primary hematopoietic stem cells	blood
34	chr8:119710600-119711200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr8:119710800-119711200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:119711200-119711600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:119714800-119715000	Enhancers	Gastric	stomach
38	chr8:119723400-119724800	Enhancers	Dnd41	blood
39	chr8:119723600-119724600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:119723800-119724200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:119723800-119724800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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