Variant report

Variant	nsv1028091
Chromosome Location	chr4:189143017-189221427
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	chr4:188914670..188915671-chr4:189167438..189168869,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIML2-8	chr4:189219369-189219538	NONHSAT099739

Extended variants
information (count: 2550 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2550 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149280299	chr4:189143042-189143043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553007905	chr4:189143048-189143049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs70940932	chr4:189143063-189143064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567213035	chr4:189143064-189143065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs397996615	chr4:189143080-189143081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189635831	chr4:189143095-189143096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115891379	chr4:189143109-189143110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564648641	chr4:189143191-189143192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542896188	chr4:189143233-189143234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182658680	chr4:189143277-189143278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543748235	chr4:189143295-189143296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564055096	chr4:189143297-189143298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529562403	chr4:189143301-189143302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561133161	chr4:189143319-189143320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187078881	chr4:189143320-189143321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559334555	chr4:189143324-189143325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528540492	chr4:189143340-189143341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551490255	chr4:189143365-189143366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571340490	chr4:189143392-189143393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs70940933	chr4:189143410-189143411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191576603	chr4:189143432-189143433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75805188	chr4:189143468-189143469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10001461	chr4:189143475-189143476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs536559907	chr4:189143484-189143485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183440979	chr4:189143492-189143493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6553180	chr4:189143493-189143494	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs538721522	chr4:189143520-189143521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149685152	chr4:189143542-189143543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188501528	chr4:189143548-189143549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551349794	chr4:189143565-189143566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs193142676	chr4:189143580-189143581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543947158	chr4:189143606-189143607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563737332	chr4:189143630-189143631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566493037	chr4:189143632-189143633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185680718	chr4:189143654-189143655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144437678	chr4:189143661-189143662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559303600	chr4:189143685-189143686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528502948	chr4:189143696-189143697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113162900	chr4:189143704-189143705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4579197	chr4:189143728-189143729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs565425795	chr4:189143732-189143733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75276888	chr4:189143734-189143735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148415302	chr4:189143789-189143790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556499846	chr4:189143805-189143806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7663213	chr4:189143827-189143828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs571158928	chr4:189143839-189143840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147538987	chr4:189143859-189143860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188389024	chr4:189143878-189143879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566465053	chr4:189143896-189143897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374339815	chr4:189143905-189143906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
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
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Cognitive impairment	21505072	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Autism	20808228	CNVD
Epilepsy	21635232	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:189140200-189144200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:189144400-189144800	Enhancers	Fetal Heart	heart
3	chr4:189147000-189147400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr4:189152000-189152200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:189152600-189153000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:189152600-189153000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr4:189152800-189153000	ZNF genes & repeats	Fetal Kidney	kidney
8	chr4:189153000-189157400	Weak transcription	Fetal Kidney	kidney
9	chr4:189157600-189157800	Enhancers	Fetal Kidney	kidney
10	chr4:189166200-189167000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:189166400-189166800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:189168200-189169600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:189173600-189174000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:189174000-189175400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:189175400-189175600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:189181400-189183600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:189183200-189183800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:189183400-189184800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:189183400-189184800	Enhancers	Osteobl	bone
20	chr4:189183600-189183800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:189183600-189184000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:189183600-189184400	Enhancers	A549	lung
23	chr4:189183600-189184800	Enhancers	Hela-S3	cervix
24	chr4:189183800-189189600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:189183800-189189800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:189184000-189184200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:189184000-189184400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:189184200-189184600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:189184600-189185000	Enhancers	Fetal Heart	heart
30	chr4:189187200-189187800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:189187600-189187800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:189187600-189187800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:189187800-189188000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr4:189187800-189188000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr4:189188000-189189000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr4:189188200-189189200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr4:189189000-189189800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr4:189189000-189189800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr4:189189000-189190000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr4:189189000-189190000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr4:189189200-189189600	Enhancers	H9 Cell Line	embryonic stem cell
42	chr4:189189200-189189800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr4:189189200-189190000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr4:189189200-189190000	Enhancers	H1 Cell Line	embryonic stem cell
45	chr4:189189200-189190000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr4:189189200-189190000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:189189600-189190200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:189189600-189190200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:189189800-189190000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:189190000-189192000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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