Variant report

Variant	nsv880978
Chromosome Location	chr4:172315768-172405095
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:172358064..172360029-chr4:172362493..172364651,2	MCF-7	breast:
2	chr1:214429883..214430693-chr4:172382652..172383247,2	MCF-7	breast:
3	chr4:172358064..172360029-chr4:172362493..172364651,2	MCF-7	breast:
4	chr4:172215180..172217206-chr4:172338805..172340584,2	K562	blood:

Extended variants
information (count: 375 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528273401	chr4:172317909-172317910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546303938	chr4:172317930-172317931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377435831	chr4:172317937-172317938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56406906	chr4:172317975-172317976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs533180496	chr4:172317992-172317993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549733564	chr4:172318004-172318005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568279371	chr4:172318073-172318074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548331345	chr4:172318120-172318121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142785965	chr4:172318134-172318135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79601551	chr4:172318148-172318149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113047746	chr4:172318198-172318199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569348756	chr4:172321000-172321001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537924335	chr4:172321038-172321039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369713045	chr4:172321055-172321056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs578233455	chr4:172321157-172321158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35043752	chr4:172321212-172321213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73867280	chr4:172321217-172321218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs554549105	chr4:172321267-172321268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559672422	chr4:172321307-172321308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546163818	chr4:172321342-172321343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148982107	chr4:172321429-172321430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145768377	chr4:172321455-172321456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575157223	chr4:172321471-172321472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551110145	chr4:172321547-172321548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374059926	chr4:172321555-172321556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188207109	chr4:172321579-172321580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563829632	chr4:172321585-172321586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533007002	chr4:172321598-172321599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146582453	chr4:172321618-172321619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560027620	chr4:172321632-172321633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529116627	chr4:172321642-172321643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549378788	chr4:172321660-172321661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569185043	chr4:172321787-172321788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538222836	chr4:172321796-172321797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551621266	chr4:172321841-172321842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114294995	chr4:172321922-172321923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534392701	chr4:172321951-172321952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181798238	chr4:172321974-172321975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371879007	chr4:172321976-172321977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571185789	chr4:172321977-172321978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374149308	chr4:172321984-172321985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536574397	chr4:172321998-172321999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556803432	chr4:172322001-172322002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575175004	chr4:172322046-172322047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536754450	chr4:172322085-172322086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557618771	chr4:172322116-172322117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548171654	chr4:172322132-172322133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550213037	chr4:172322141-172322142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567566569	chr4:172322151-172322152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544193271	chr4:172322166-172322167	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172317800-172318200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:172321000-172321200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:172321200-172322000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:172322000-172322400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr4:172322000-172322400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:172322000-172322400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:172322000-172322400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:172322400-172326400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:172326000-172326600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:172326400-172326600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr4:172326600-172327400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:172327400-172327600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr4:172367400-172368800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:172367600-172368600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:172381400-172381800	Active TSS	Fetal Heart	heart
16	chr4:172382400-172383000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr4:172382400-172383200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr4:172382600-172383000	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr4:172394000-172395000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:172404800-172405000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:172405000-172405800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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