Variant report

Variant	nsv1025670
Chromosome Location	chr8:6157299-6173868
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: 1134 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:1134 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201673067	chr8:6157307-6157308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547684729	chr8:6157317-6157318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571011966	chr8:6157338-6157339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34787073	chr8:6157342-6157343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368893968	chr8:6157349-6157350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376027826	chr8:6157352-6157353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187520847	chr8:6157353-6157354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143303216	chr8:6157363-6157364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537469230	chr8:6157367-6157368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13265771	chr8:6157377-6157378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs35202591	chr8:6157385-6157386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35106383	chr8:6157388-6157389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574488203	chr8:6157391-6157392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540283077	chr8:6157415-6157416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559918865	chr8:6157417-6157418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34905822	chr8:6157462-6157463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545578295	chr8:6157468-6157469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562472375	chr8:6157548-6157549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184553496	chr8:6157564-6157565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531632492	chr8:6157609-6157610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202063776	chr8:6157637-6157638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200145685	chr8:6157656-6157657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527789632	chr8:6157683-6157684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547886817	chr8:6157732-6157733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563587161	chr8:6157775-6157776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571068693	chr8:6157781-6157782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540069853	chr8:6157793-6157794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201081094	chr8:6157803-6157804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376775221	chr8:6157822-6157823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200221187	chr8:6157836-6157837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112656519	chr8:6157837-6157838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550373253	chr8:6157839-6157840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369258346	chr8:6157842-6157843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200284370	chr8:6157859-6157860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375559451	chr8:6157865-6157866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201023164	chr8:6157904-6157905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574327327	chr8:6157926-6157927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533667294	chr8:6158030-6158031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553485147	chr8:6158036-6158037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576510540	chr8:6158048-6158049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545641560	chr8:6158055-6158056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545901944	chr8:6158095-6158096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555932385	chr8:6158098-6158099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541381757	chr8:6158127-6158128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139023567	chr8:6158130-6158131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141551996	chr8:6158135-6158136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150363451	chr8:6158144-6158145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193212382	chr8:6158160-6158161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574358242	chr8:6158166-6158167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371905697	chr8:6158180-6158181	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:29 , 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
28	chr8:6173000-6173600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr8:6173200-6173600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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