Variant report

Variant	nsv1016549
Chromosome Location	chr4:173411663-173441120
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 234 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550108548	chr4:173415612-173415613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs338006	chr4:173415659-173415660	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs542723849	chr4:173415661-173415662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558866520	chr4:173415688-173415689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572083757	chr4:173415693-173415694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534715522	chr4:173415721-173415722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555021258	chr4:173415754-173415755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535403498	chr4:173415793-173415794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574841395	chr4:173415828-173415829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185618293	chr4:173415830-173415831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79162195	chr4:173415833-173415834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565875594	chr4:173415848-173415849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112432827	chr4:173415854-173415855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188839260	chr4:173415927-173415928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143217700	chr4:173415968-173415969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547098553	chr4:173415973-173415974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113355318	chr4:173415974-173415975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529760567	chr4:173416022-173416023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544900439	chr4:173416053-173416054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549887352	chr4:173416055-173416056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569910043	chr4:173416059-173416060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538872420	chr4:173416118-173416119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552421356	chr4:173416136-173416137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181640037	chr4:173416168-173416169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78180460	chr4:173416169-173416170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185414546	chr4:173416195-173416196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190274967	chr4:173416224-173416225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs180820518	chr4:173416258-173416259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557456667	chr4:173416271-173416272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557852049	chr4:173416349-173416350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185891684	chr4:173416358-173416359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545239157	chr4:173416399-173416400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190806109	chr4:173416407-173416408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140181614	chr4:173416430-173416431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183907382	chr4:173416436-173416437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150073857	chr4:173416441-173416442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74919070	chr4:173416528-173416529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543127464	chr4:173416533-173416534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563075325	chr4:173416557-173416558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77503299	chr4:173416632-173416633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs367670642	chr4:173416641-173416642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552359576	chr4:173416664-173416665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115255077	chr4:173416686-173416687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11132947	chr4:173416755-173416756	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs576204233	chr4:173416771-173416772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574378808	chr4:173416786-173416787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568342365	chr4:173416794-173416795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs338007	chr4:173416843-173416844	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs74603778	chr4:173416850-173416851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559645409	chr4:173416860-173416861	Enhancers	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
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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173415600-173417400	Enhancers	Hela-S3	cervix
2	chr4:173416600-173417000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:173434800-173436000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr4:173434800-173436600	Enhancers	Hela-S3	cervix
5	chr4:173434800-173437200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:173435000-173435800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:173435600-173436400	Enhancers	NH-A	brain
8	chr4:173436000-173438400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:173436400-173436800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:173436600-173438000	Weak transcription	Hela-S3	cervix
11	chr4:173438000-173439200	Enhancers	Hela-S3	cervix
12	chr4:173438400-173438600	Enhancers	Placenta Amnion	Placenta Amnion

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