Variant report

Variant	nsv539606
Chromosome Location	chr8:51006600-51057478
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:51030711..51032424-chr8:51036929..51039858,2	MCF-7	breast:
2	chr8:51050537..51053146-chr8:51056966..51059260,2	K562	blood:
3	chr8:51050537..51053146-chr8:51056966..51059260,2	K562	blood:
4	chr8:51030711..51032424-chr8:51036929..51039858,2	MCF-7	breast:

Extended variants
information (count: 1979 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1979 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185166441	chr8:51006600-51006601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560386970	chr8:51006601-51006602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371183116	chr8:51006618-51006619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546031111	chr8:51006620-51006621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564427325	chr8:51006710-51006711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149214805	chr8:51006737-51006738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550082127	chr8:51006742-51006743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568011859	chr8:51006751-51006752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528888971	chr8:51006800-51006801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143461554	chr8:51006807-51006808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565684184	chr8:51006811-51006812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548866859	chr8:51006834-51006835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369625912	chr8:51006840-51006841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565458461	chr8:51006858-51006859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539634138	chr8:51006948-51006949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531139490	chr8:51006952-51006953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558017209	chr8:51006977-51006978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199506504	chr8:51007086-51007087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150931240	chr8:51007099-51007100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551229610	chr8:51007227-51007228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574730641	chr8:51007231-51007232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544713142	chr8:51007232-51007233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541905747	chr8:51007275-51007276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187518124	chr8:51007279-51007280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140796804	chr8:51007334-51007335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545967722	chr8:51007373-51007374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564313653	chr8:51007416-51007417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144635222	chr8:51007453-51007454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192346919	chr8:51007480-51007481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138671668	chr8:51007512-51007513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528875755	chr8:51007515-51007516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547118753	chr8:51007520-51007521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559383399	chr8:51007523-51007524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141713050	chr8:51007575-51007576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145576693	chr8:51007582-51007583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184729603	chr8:51007596-51007597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537246691	chr8:51007631-51007632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549257862	chr8:51007634-51007635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs80289378	chr8:51007687-51007688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535829424	chr8:51007711-51007712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188005183	chr8:51007717-51007718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530085495	chr8:51007840-51007841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539511684	chr8:51007870-51007871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180796195	chr8:51007913-51007914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs118118162	chr8:51007961-51007962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543701126	chr8:51007969-51007970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562397130	chr8:51007978-51007979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574285314	chr8:51008084-51008085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540998765	chr8:51008106-51008107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559056961	chr8:51008116-51008117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	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
Salivary gland tumor	18059337	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
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51003400-51017400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51017400-51018400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:51018400-51039600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:51027800-51028600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:51028200-51028600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:51028600-51030600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr8:51029400-51030200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:51030200-51031000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:51031000-51031200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:51031000-51031600	Enhancers	Osteobl	bone
11	chr8:51031400-51034800	Weak transcription	Brain Germinal Matrix	brain
12	chr8:51031600-51038800	Weak transcription	Osteobl	bone
13	chr8:51032200-51046600	Weak transcription	Fetal Brain Male	brain
14	chr8:51034600-51035200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr8:51034600-51035200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:51034600-51038200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:51034800-51035200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr8:51034800-51037800	Enhancers	Brain Germinal Matrix	brain
19	chr8:51035000-51035600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr8:51037400-51039000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:51037800-51046800	Weak transcription	Brain Germinal Matrix	brain
22	chr8:51038000-51047600	Weak transcription	Right Atrium	heart
23	chr8:51038200-51038600	Enhancers	Spleen	Spleen
24	chr8:51038200-51038800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:51038200-51038800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:51038200-51040400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:51038400-51038600	Enhancers	Fetal Intestine Large	intestine
28	chr8:51038400-51039000	Enhancers	NH-A	brain
29	chr8:51038600-51039400	Weak transcription	Fetal Intestine Large	intestine
30	chr8:51038800-51040000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:51038800-51040400	Enhancers	Osteobl	bone
32	chr8:51039000-51039400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:51039000-51039800	Weak transcription	NH-A	brain
34	chr8:51039200-51040000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:51039400-51039800	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr8:51039400-51040200	Enhancers	Fetal Intestine Large	intestine
37	chr8:51039400-51040600	Enhancers	Hela-S3	cervix
38	chr8:51039400-51040800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr8:51039600-51040200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:51039600-51040600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:51039600-51040600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:51039600-51040600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:51039800-51040600	Enhancers	Adipose Nuclei	Adipose
44	chr8:51039800-51040600	Enhancers	NH-A	brain
45	chr8:51039800-51040800	Enhancers	Rectal Smooth Muscle	rectum
46	chr8:51040000-51040200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:51040000-51040600	Enhancers	Colon Smooth Muscle	Colon
48	chr8:51040000-51040800	Enhancers	NHLF	lung
49	chr8:51040600-51040800	Weak transcription	NH-A	brain
50	chr8:51040600-51048400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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