Variant report

Variant	nsv609994
Chromosome Location	chr8:6155658-6171324
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	chr8:6145627..6147844-chr8:6162410..6164202,2	MCF-7	breast:

Extended variants
information (count: 1172 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:1172 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12679001	chr8:6155658-6155659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572770484	chr8:6155672-6155673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61481450	chr8:6155691-6155692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs536681212	chr8:6155698-6155699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12681204	chr8:6155715-6155716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs140558054	chr8:6155756-6155757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545057096	chr8:6155804-6155805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117040678	chr8:6155811-6155812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376377111	chr8:6155812-6155813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575402782	chr8:6155845-6155846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369930574	chr8:6155858-6155859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150421382	chr8:6155873-6155874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549725247	chr8:6155874-6155875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562955608	chr8:6155880-6155881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77208506	chr8:6155901-6155902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530306304	chr8:6155918-6155919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549008384	chr8:6155968-6155969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559047354	chr8:6155975-6155976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138218860	chr8:6155979-6155980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551473358	chr8:6155982-6155983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571483466	chr8:6155995-6155996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202183218	chr8:6155998-6155999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199888804	chr8:6156016-6156017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144343763	chr8:6156025-6156026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75431692	chr8:6156029-6156030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371912807	chr8:6156033-6156034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377062208	chr8:6156049-6156050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537279354	chr8:6156060-6156061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550776594	chr8:6156062-6156063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184066968	chr8:6156069-6156070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536149262	chr8:6156088-6156089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149551871	chr8:6156091-6156092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573106454	chr8:6156122-6156123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539731787	chr8:6156130-6156131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117414423	chr8:6156151-6156152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188854508	chr8:6156192-6156193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181653027	chr8:6156193-6156194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146349226	chr8:6156227-6156228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575116281	chr8:6156252-6156253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548041363	chr8:6156274-6156275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540524873	chr8:6156281-6156282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200672071	chr8:6156287-6156288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559323181	chr8:6156300-6156301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528041222	chr8:6156301-6156302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545005178	chr8:6156314-6156315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567876929	chr8:6156324-6156325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563424122	chr8:6156329-6156330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550837302	chr8:6156347-6156348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558027064	chr8:6156372-6156373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530002941	chr8:6156389-6156390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6154400-6158200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:6154400-6158200	Weak transcription	Osteobl	bone
3	chr8:6158200-6158400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:6158200-6160200	Enhancers	Osteobl	bone
5	chr8:6158400-6158800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:6158800-6159200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:6160000-6160200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:6160200-6161200	Weak transcription	Osteobl	bone
9	chr8:6160200-6167400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:6161000-6162200	Enhancers	Brain Germinal Matrix	brain
11	chr8:6161200-6161800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr8:6161200-6164000	Enhancers	Osteobl	bone
13	chr8:6162400-6162600	Enhancers	NH-A	brain
14	chr8:6162600-6163200	Weak transcription	NH-A	brain
15	chr8:6163200-6164000	Enhancers	NH-A	brain
16	chr8:6164000-6168800	Weak transcription	Osteobl	bone
17	chr8:6165600-6166000	Enhancers	Spleen	Spleen
18	chr8:6166000-6169000	Weak transcription	Spleen	Spleen
19	chr8:6167400-6167600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:6168400-6169600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr8:6168800-6169400	Enhancers	Osteobl	bone
22	chr8:6169000-6169200	Enhancers	A549	lung
23	chr8:6169400-6170800	Weak transcription	Osteobl	bone
24	chr8:6170600-6170800	Active TSS	A549	lung
25	chr8:6170800-6171600	Flanking Active TSS	A549	lung
26	chr8:6170800-6171600	Enhancers	Osteobl	bone
27	chr8:6171000-6171400	Bivalent Enhancer	HepG2	liver

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