Variant report

Variant	nsv599089
Chromosome Location	chr5:98095060-98098285
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	chr5:98097815..98101035-chr5:98108800..98111033,3	MCF-7	breast:
2	chr20:49349783..49350401-chr5:98097256..98097858,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174136	chromatin interactions
ENSG00000246763	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4018049	chr5:98095106-98095107	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570560102	chr5:98095130-98095131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531174953	chr5:98095131-98095132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549771078	chr5:98095132-98095133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568614998	chr5:98095139-98095140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539996156	chr5:98095194-98095195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536166097	chr5:98095197-98095198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182789518	chr5:98095215-98095216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560204743	chr5:98095233-98095234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566276762	chr5:98095246-98095247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371364277	chr5:98095255-98095256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111312268	chr5:98095283-98095284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558270369	chr5:98095314-98095315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189920069	chr5:98095342-98095343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564282014	chr5:98095385-98095386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142932552	chr5:98095409-98095410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532064366	chr5:98095421-98095422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371693859	chr5:98095447-98095448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555738940	chr5:98095591-98095592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573990495	chr5:98095623-98095624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541718260	chr5:98095624-98095625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551778052	chr5:98095654-98095655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527467759	chr5:98095702-98095703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545610835	chr5:98095726-98095727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114660337	chr5:98095743-98095744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375921991	chr5:98095756-98095757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568482204	chr5:98095811-98095812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531439075	chr5:98095851-98095852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72773670	chr5:98095859-98095860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs146224074	chr5:98095947-98095948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7722260	chr5:98095961-98095962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548090660	chr5:98095980-98095981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566412003	chr5:98096001-98096002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182915002	chr5:98096090-98096091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372442858	chr5:98096154-98096155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs906681	chr5:98096173-98096174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs570009747	chr5:98096177-98096178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537541197	chr5:98096195-98096196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112524402	chr5:98096219-98096220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142410052	chr5:98096269-98096270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541059255	chr5:98096301-98096302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376444953	chr5:98096316-98096317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553615599	chr5:98096329-98096330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369718039	chr5:98096356-98096357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545547805	chr5:98096358-98096359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564316028	chr5:98096386-98096387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187258514	chr5:98096465-98096466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150512174	chr5:98096484-98096485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116702111	chr5:98096513-98096514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373257302	chr5:98096514-98096515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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	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
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
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
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98089600-98104000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:98090200-98099000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:98095000-98095200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:98097200-98097400	Enhancers	HSMMtube	muscle
5	chr5:98097400-98103200	Weak transcription	HSMMtube	muscle
6	chr5:98098200-98101000	Enhancers	NHDF-Ad	bronchial

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