Variant report

Variant	nsv465652
Chromosome Location	chr8:43539041-43791691
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	chr15:63385860..63386443-chr8:43553599..43554374,2	MCF-7	breast:

Extended variants
information (count: 15516 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:15516 , 50 per page) page: 1 2 3 4 5 6 7 ... 311

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6474486	chr8:43539041-43539042	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142031497	chr8:43539053-43539054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs542432326	chr8:43539087-43539088	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs377210727	chr8:43539090-43539091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs531083602	chr8:43539092-43539093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs182952012	chr8:43539099-43539100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs570714911	chr8:43539108-43539109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs373643016	chr8:43539133-43539134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs533364157	chr8:43539164-43539165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs546722382	chr8:43539192-43539193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs566614312	chr8:43539194-43539195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs535585494	chr8:43539208-43539209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs150270328	chr8:43539237-43539238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs552632079	chr8:43539246-43539247	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs537716763	chr8:43539248-43539249	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs558043240	chr8:43539262-43539263	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs114241522	chr8:43539266-43539267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs547899733	chr8:43539299-43539300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs553844342	chr8:43539304-43539305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs573764946	chr8:43539305-43539306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs74575011	chr8:43539342-43539343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs567865844	chr8:43539348-43539349	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs111546907	chr8:43539358-43539359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs562228400	chr8:43539375-43539376	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs186265921	chr8:43539380-43539381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs538219815	chr8:43539387-43539388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs114834941	chr8:43539389-43539390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs78014855	chr8:43539392-43539393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs78743987	chr8:43539403-43539404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs78536719	chr8:43539417-43539418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs76196171	chr8:43539420-43539421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs533493402	chr8:43539433-43539434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs546572022	chr8:43539443-43539444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs555036350	chr8:43539444-43539445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs143195927	chr8:43539445-43539446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs201531243	chr8:43539463-43539464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs78602424	chr8:43539484-43539485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs529322042	chr8:43539485-43539486	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs76535485	chr8:43539486-43539487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs79820429	chr8:43539490-43539491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs75998055	chr8:43539492-43539493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs76766835	chr8:43539498-43539499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs190200969	chr8:43539499-43539500	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs7464310	chr8:43539520-43539521	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs538050622	chr8:43539530-43539531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs182699446	chr8:43539540-43539541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs187431274	chr8:43539545-43539546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs533876908	chr8:43539574-43539575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs147487872	chr8:43539582-43539583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs554023686	chr8:43539602-43539603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	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
Colorectal cancer	16272173	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
Melanoma	18172304	CNVD
Medulloblastoma	21979893	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
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Seminomas	18059402	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
Rhabdomyosarcoma	16790082	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	23813976	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19214233	CNVD

Chromatin state (count:530 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:43535200-43539600	ZNF genes & repeats	Liver	Liver
2	chr8:43538400-43541800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:43539800-43541600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr8:43540000-43540400	Active TSS	Fetal Heart	heart
5	chr8:43541800-43543800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:43543800-43545600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:43545200-43546200	ZNF genes & repeats	Liver	Liver
8	chr8:43552400-43552800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr8:43553600-43554200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr8:43554200-43555000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr8:43555600-43557000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr8:43565800-43568800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr8:43567000-43569000	ZNF genes & repeats	Psoas Muscle	Psoas
14	chr8:43567200-43568800	ZNF genes & repeats	Liver	Liver
15	chr8:43567400-43569800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:43571800-43573600	ZNF genes & repeats	Liver	Liver
17	chr8:43572200-43574600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:43572200-43576600	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr8:43575000-43579400	ZNF genes & repeats	Liver	Liver
20	chr8:43575400-43578400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr8:43575800-43576400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr8:43582200-43594800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:43582800-43584000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
24	chr8:43584800-43591400	ZNF genes & repeats	Liver	Liver
25	chr8:43585600-43588000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr8:43586600-43589600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
27	chr8:43589200-43592000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
28	chr8:43591000-43592600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr8:43591400-43593400	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr8:43591800-43593800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
31	chr8:43592000-43594600	ZNF genes & repeats	Liver	Liver
32	chr8:43595800-43602200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:43603600-43605600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr8:43604600-43607200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:43604800-43605400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
36	chr8:43608800-43616200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:43615200-43620200	ZNF genes & repeats	Liver	Liver
38	chr8:43618000-43619600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:43618200-43627400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
40	chr8:43620400-43620800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:43620800-43621400	ZNF genes & repeats	Liver	Liver
42	chr8:43623000-43623600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
43	chr8:43624400-43626000	ZNF genes & repeats	Liver	Liver
44	chr8:43624800-43632200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:43628200-43637000	ZNF genes & repeats	Liver	Liver
46	chr8:43629800-43655600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:43631000-43633200	Active TSS	Fetal Heart	heart
48	chr8:43633400-43633800	Weak transcription	Fetal Heart	heart
49	chr8:43634600-43635800	Active TSS	Fetal Heart	heart
50	chr8:43635000-43636000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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