Variant report

Variant	nsv968023
Chromosome Location	chr4:173098597-173113255
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:173103489..173104997-chr4:173109245..173111025,2	MCF-7	breast:
2	chr4:173111162..173113888-chr4:173117599..173120346,2	MCF-7	breast:
3	chr4:173050637..173053046-chr4:173107907..173109625,2	MCF-7	breast:
4	chr4:173103489..173104997-chr4:173109245..173111025,2	MCF-7	breast:

Extended variants
information (count: 109 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185946576	chr4:173109004-173109005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138963170	chr4:173109033-173109034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72700992	chr4:173109066-173109067	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs113999039	chr4:173109078-173109079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551465292	chr4:173109089-173109090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143811648	chr4:173109110-173109111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528986670	chr4:173109194-173109195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549072300	chr4:173109230-173109231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72700993	chr4:173109276-173109277	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs531370028	chr4:173109295-173109296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551375640	chr4:173109298-173109299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28431282	chr4:173109317-173109318	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs77877506	chr4:173109337-173109338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547582232	chr4:173109338-173109339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567304999	chr4:173109344-173109345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189838759	chr4:173109348-173109349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544750731	chr4:173109439-173109440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556271028	chr4:173109442-173109443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147251227	chr4:173109469-173109470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564565071	chr4:173109476-173109477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138770147	chr4:173109502-173109503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558517478	chr4:173109530-173109531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183157236	chr4:173109531-173109532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116438267	chr4:173109532-173109533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115099512	chr4:173109593-173109594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540600283	chr4:173109597-173109598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2202281	chr4:173109636-173109637	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs544008624	chr4:173109639-173109640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs836315	chr4:173109642-173109643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531423192	chr4:173109674-173109675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7669963	chr4:173109800-173109801	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs564677830	chr4:173109802-173109803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527590858	chr4:173109862-173109863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547349076	chr4:173109869-173109870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75426518	chr4:173109879-173109880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144761066	chr4:173109889-173109890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549557116	chr4:173109896-173109897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372884144	chr4:173109917-173109918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569863101	chr4:173109932-173109933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6553616	chr4:173109961-173109962	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs148559443	chr4:173109993-173109994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565900871	chr4:173110015-173110016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187933205	chr4:173110026-173110027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114201456	chr4:173110058-173110059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115159166	chr4:173110128-173110129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369725334	chr4:173110161-173110162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544068823	chr4:173110173-173110174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557583388	chr4:173110216-173110217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190455584	chr4:173110268-173110269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575696607	chr4:173110271-173110272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173109000-173110200	Enhancers	HepG2	liver
2	chr4:173109600-173110000	Enhancers	Gastric	stomach
3	chr4:173109800-173110200	Enhancers	Brain Germinal Matrix	brain
4	chr4:173110000-173110400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:173110200-173110400	Weak transcription	Brain Germinal Matrix	brain
6	chr4:173110400-173110800	Enhancers	Brain Germinal Matrix	brain
7	chr4:173110600-173111600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:173110800-173111800	Weak transcription	Brain Germinal Matrix	brain
9	chr4:173111800-173112000	Enhancers	Brain Germinal Matrix	brain

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