Variant report

Variant	nsv980984
Chromosome Location	chr5:89563586-89566679
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	chr5:89564889..89568033-chr5:89575518..89579089,3	MCF-7	breast:
2	chr5:89548610..89551361-chr5:89563315..89565634,2	K562	blood:

Extended variants
information (count: 116 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148198750	chr5:89563590-89563591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565522782	chr5:89563605-89563606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527874461	chr5:89563647-89563648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377674987	chr5:89563666-89563667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114840287	chr5:89563670-89563671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191387261	chr5:89563722-89563723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141190574	chr5:89563737-89563738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79320946	chr5:89563745-89563746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568488121	chr5:89563770-89563771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559077567	chr5:89563784-89563785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112245389	chr5:89563785-89563786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184642564	chr5:89563822-89563823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72781006	chr5:89563842-89563843	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533701122	chr5:89563857-89563858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189413789	chr5:89564012-89564013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557006098	chr5:89564021-89564022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574456375	chr5:89564035-89564036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191899544	chr5:89564036-89564037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185322385	chr5:89564045-89564046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs16868412	chr5:89564074-89564075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545938010	chr5:89564078-89564079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556623909	chr5:89564082-89564083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190152484	chr5:89564087-89564088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181365289	chr5:89564097-89564098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544318327	chr5:89564103-89564104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539873498	chr5:89564157-89564158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56052030	chr5:89564170-89564171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs139298181	chr5:89564227-89564228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527891472	chr5:89564239-89564240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541230108	chr5:89564306-89564307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561515197	chr5:89564447-89564448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186487329	chr5:89564481-89564482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143620110	chr5:89564521-89564522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73186605	chr5:89564536-89564537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs188231983	chr5:89564621-89564622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372650762	chr5:89564636-89564637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551654808	chr5:89564678-89564679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372373645	chr5:89564692-89564693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571421700	chr5:89564695-89564696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534008641	chr5:89564701-89564702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142613171	chr5:89564743-89564744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199906104	chr5:89564769-89564770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567447107	chr5:89564770-89564771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200942574	chr5:89564778-89564779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138766333	chr5:89564779-89564780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112994291	chr5:89564783-89564784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556689235	chr5:89564800-89564801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186336462	chr5:89565009-89565010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs16868414	chr5:89565016-89565017	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs572681858	chr5:89565026-89565027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89561200-89563600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:89561200-89582200	Weak transcription	Aorta	Aorta
3	chr5:89562000-89565400	Weak transcription	Fetal Brain Female	brain
4	chr5:89562200-89565000	Weak transcription	Fetal Brain Male	brain
5	chr5:89562200-89565800	Weak transcription	Brain Germinal Matrix	brain
6	chr5:89563400-89563600	Enhancers	HSMMtube	muscle
7	chr5:89563600-89563800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:89565000-89566000	Enhancers	Fetal Brain Male	brain
9	chr5:89565400-89565800	Enhancers	Fetal Brain Female	brain
10	chr5:89565800-89566200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:89565800-89566400	Enhancers	Brain Germinal Matrix	brain
12	chr5:89565800-89570000	Weak transcription	Fetal Brain Female	brain
13	chr5:89566000-89570200	Weak transcription	Fetal Brain Male	brain

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