Variant report

Variant	nsv1019073
Chromosome Location	chr8:43556092-43767214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11814 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:11814 , 50 per page) page: 1 2 3 4 5 6 7 ... 237

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539540372	chr8:43556094-43556095	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs574630847	chr8:43556101-43556102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs559152472	chr8:43556136-43556137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs572675645	chr8:43556147-43556148	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs535262696	chr8:43556172-43556173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs554951566	chr8:43556213-43556214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs183772192	chr8:43556229-43556230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs543425330	chr8:43556245-43556246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs563704037	chr8:43556246-43556247	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs114054691	chr8:43556268-43556269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs74401820	chr8:43556288-43556289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs186822104	chr8:43556294-43556295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs540169469	chr8:43556297-43556298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs567695999	chr8:43556307-43556308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs192354067	chr8:43556326-43556327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs561797501	chr8:43556327-43556328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs530853637	chr8:43556332-43556333	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs185772468	chr8:43556359-43556360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs550259382	chr8:43556369-43556370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs570434016	chr8:43556400-43556401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs533006928	chr8:43556421-43556422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs189841380	chr8:43556475-43556476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs140117039	chr8:43556520-43556521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs535198429	chr8:43556521-43556522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs555166891	chr8:43556537-43556538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs143729585	chr8:43556570-43556571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs560476163	chr8:43556587-43556588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs537760015	chr8:43556590-43556591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs193073276	chr8:43556616-43556617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs115183654	chr8:43556627-43556628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs368744046	chr8:43556636-43556637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs553033449	chr8:43556665-43556666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs185271596	chr8:43556682-43556683	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs562953400	chr8:43556729-43556730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs145741655	chr8:43556733-43556734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs561920867	chr8:43556755-43556756	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs530674777	chr8:43556763-43556764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs375811243	chr8:43556766-43556767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs115871410	chr8:43556773-43556774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs532943721	chr8:43556774-43556775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs148934623	chr8:43556782-43556783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs542825098	chr8:43556798-43556799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs566546889	chr8:43556799-43556800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs529001995	chr8:43556800-43556801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs142745689	chr8:43556820-43556821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs568631118	chr8:43556838-43556839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs151012294	chr8:43556841-43556842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs559612629	chr8:43556851-43556852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs201954888	chr8:43556864-43556865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs540822951	chr8:43556880-43556881	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:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:43555600-43557000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr8:43565800-43568800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr8:43567000-43569000	ZNF genes & repeats	Psoas Muscle	Psoas
4	chr8:43567200-43568800	ZNF genes & repeats	Liver	Liver
5	chr8:43567400-43569800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:43571800-43573600	ZNF genes & repeats	Liver	Liver
7	chr8:43572200-43574600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:43572200-43576600	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr8:43575000-43579400	ZNF genes & repeats	Liver	Liver
10	chr8:43575400-43578400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr8:43575800-43576400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr8:43582200-43594800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:43582800-43584000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr8:43584800-43591400	ZNF genes & repeats	Liver	Liver
15	chr8:43585600-43588000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr8:43586600-43589600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
17	chr8:43589200-43592000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr8:43591000-43592600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr8:43591400-43593400	ZNF genes & repeats	Adipose Nuclei	Adipose
20	chr8:43591800-43593800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr8:43592000-43594600	ZNF genes & repeats	Liver	Liver
22	chr8:43595800-43602200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:43603600-43605600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr8:43604600-43607200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:43604800-43605400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr8:43608800-43616200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:43615200-43620200	ZNF genes & repeats	Liver	Liver
28	chr8:43618000-43619600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:43618200-43627400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr8:43620400-43620800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:43620800-43621400	ZNF genes & repeats	Liver	Liver
32	chr8:43623000-43623600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr8:43624400-43626000	ZNF genes & repeats	Liver	Liver
34	chr8:43624800-43632200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:43628200-43637000	ZNF genes & repeats	Liver	Liver
36	chr8:43629800-43655600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:43631000-43633200	Active TSS	Fetal Heart	heart
38	chr8:43633400-43633800	Weak transcription	Fetal Heart	heart
39	chr8:43634600-43635800	Active TSS	Fetal Heart	heart
40	chr8:43635000-43636000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
41	chr8:43635200-43635600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
42	chr8:43637800-43639000	ZNF genes & repeats	Liver	Liver
43	chr8:43638000-43646800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
44	chr8:43641400-43654200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
45	chr8:43647600-43649000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
46	chr8:43649400-43651000	ZNF genes & repeats	Liver	Liver
47	chr8:43649400-43654400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
48	chr8:43650400-43652400	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr8:43658000-43659000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr8:43659200-43660800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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