Variant report

Variant	nsv963985
Chromosome Location	chr4:98690620-98710102
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	chr4:98687863..98690416-chr4:98692655..98695152,2	MCF-7	breast:

Extended variants
information (count: 404 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113967444	chr4:98690636-98690637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554381016	chr4:98690666-98690667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559220372	chr4:98690741-98690742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533000238	chr4:98690765-98690766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149223513	chr4:98690802-98690803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34425232	chr4:98690815-98690816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140846007	chr4:98690924-98690925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563661258	chr4:98690934-98690935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111878066	chr4:98691032-98691033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs3894843	chr4:98691038-98691039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554489008	chr4:98691042-98691043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114286992	chr4:98691053-98691054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372402965	chr4:98691111-98691112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375429711	chr4:98691113-98691114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536855334	chr4:98691190-98691191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571951176	chr4:98691232-98691233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34442422	chr4:98691243-98691244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554613289	chr4:98691252-98691253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144590921	chr4:98691275-98691276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557501449	chr4:98691316-98691317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4106941	chr4:98691318-98691319	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs191089062	chr4:98691335-98691336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573349896	chr4:98691341-98691342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140298581	chr4:98691449-98691450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374772072	chr4:98691515-98691516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182802947	chr4:98691533-98691534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576141285	chr4:98691547-98691548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577496319	chr4:98691560-98691561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544899155	chr4:98691568-98691569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555413540	chr4:98691607-98691608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563465650	chr4:98691612-98691613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530910402	chr4:98691736-98691737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113058381	chr4:98691841-98691842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561356400	chr4:98691844-98691845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528527146	chr4:98691856-98691857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546993986	chr4:98691860-98691861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73834194	chr4:98691902-98691903	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs368896147	chr4:98692016-98692017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs595656	chr4:98692079-98692080	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs373662573	chr4:98692108-98692109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550901960	chr4:98692146-98692147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186557952	chr4:98692189-98692190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537024217	chr4:98692230-98692231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572427612	chr4:98692242-98692243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546036819	chr4:98692274-98692275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113440599	chr4:98692282-98692283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117629405	chr4:98692284-98692285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75459452	chr4:98692325-98692326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552525991	chr4:98692342-98692343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577534209	chr4:98692383-98692384	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	19197363	CNVD
Melanoma	20688739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:98688600-98690800	Weak transcription	HUVEC	blood vessel
2	chr4:98690800-98693200	Enhancers	HUVEC	blood vessel
3	chr4:98691400-98691600	Enhancers	Brain Germinal Matrix	brain
4	chr4:98691400-98691800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:98691400-98692000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr4:98691600-98692000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:98691600-98692200	Weak transcription	Brain Germinal Matrix	brain
8	chr4:98692200-98693000	Enhancers	Brain Germinal Matrix	brain
9	chr4:98692600-98693000	ZNF genes & repeats	Pancreas	Pancrea
10	chr4:98692800-98693000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:98693000-98699000	Weak transcription	Pancreas	Pancrea
12	chr4:98694600-98695600	Enhancers	Dnd41	blood
13	chr4:98695600-98696000	Flanking Active TSS	Dnd41	blood
14	chr4:98696000-98696800	Enhancers	Dnd41	blood
15	chr4:98699400-98699600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:98699600-98700000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:98707400-98711200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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