Variant report

Variant	esv2757099
Chromosome Location	chr4:189171046-189262246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIML2-8	chr4:189222763-189222834	NONHSAT099739
2	lnc-TRIML2-8	chr4:189219369-189219538	NONHSAT099739

Extended variants
information (count: 3224 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:3224 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181746139	chr4:189173628-189173629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79818511	chr4:189173648-189173649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537808173	chr4:189173670-189173671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114434185	chr4:189173748-189173749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556656448	chr4:189173773-189173774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368419435	chr4:189173774-189173775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs386683782	chr4:189173776-189173777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75692757	chr4:189173777-189173778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566180556	chr4:189173778-189173779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534766784	chr4:189173780-189173781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557985892	chr4:189173781-189173782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76183650	chr4:189173784-189173785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113889362	chr4:189173841-189173842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537228140	chr4:189173868-189173869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185261157	chr4:189173892-189173893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557320672	chr4:189173906-189173907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189635602	chr4:189173907-189173908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113719530	chr4:189173961-189173962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552655800	chr4:189174015-189174016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572898637	chr4:189174049-189174050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544822280	chr4:189174058-189174059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78742883	chr4:189174069-189174070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114846148	chr4:189174093-189174094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543585289	chr4:189174099-189174100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530183865	chr4:189174148-189174149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568311007	chr4:189174157-189174158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529525770	chr4:189174165-189174166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144347689	chr4:189174171-189174172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73019419	chr4:189174216-189174217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528478615	chr4:189174235-189174236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181415989	chr4:189174263-189174264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571748957	chr4:189174264-189174265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186621904	chr4:189174287-189174288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541864763	chr4:189174288-189174289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545222287	chr4:189174366-189174367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114749901	chr4:189174370-189174371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567563210	chr4:189174372-189174373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536112561	chr4:189174493-189174494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11735736	chr4:189174548-189174549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs542934057	chr4:189174610-189174611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554113173	chr4:189174614-189174615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4398592	chr4:189174651-189174652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560481007	chr4:189174686-189174687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558256704	chr4:189174727-189174728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574962933	chr4:189174747-189174748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191077034	chr4:189174772-189174773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143699703	chr4:189174803-189174804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529592900	chr4:189174877-189174878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183699191	chr4:189174890-189174891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141565852	chr4:189174905-189174906	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
Chronic lymphocytic leukemia	20421269	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:189173600-189174000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:189174000-189175400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:189175400-189175600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:189181400-189183600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:189183200-189183800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:189183400-189184800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:189183400-189184800	Enhancers	Osteobl	bone
8	chr4:189183600-189183800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:189183600-189184000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:189183600-189184400	Enhancers	A549	lung
11	chr4:189183600-189184800	Enhancers	Hela-S3	cervix
12	chr4:189183800-189189600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:189183800-189189800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:189184000-189184200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:189184000-189184400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:189184200-189184600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:189184600-189185000	Enhancers	Fetal Heart	heart
18	chr4:189187200-189187800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:189187600-189187800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:189187600-189187800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:189187800-189188000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr4:189187800-189188000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr4:189188000-189189000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:189188200-189189200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr4:189189000-189189800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:189189000-189189800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr4:189189000-189190000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:189189000-189190000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr4:189189200-189189600	Enhancers	H9 Cell Line	embryonic stem cell
30	chr4:189189200-189189800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr4:189189200-189190000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr4:189189200-189190000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr4:189189200-189190000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr4:189189200-189190000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:189189600-189190200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:189189600-189190200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:189189800-189190000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:189190000-189192000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:189190000-189200400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:189190000-189201000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr4:189190200-189191800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:189190200-189192800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:189191800-189192200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:189192000-189192200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:189192200-189194600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr4:189193600-189194200	Enhancers	A549	lung
47	chr4:189196000-189196200	Enhancers	A549	lung
48	chr4:189200400-189200600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr4:189200400-189200600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:189200400-189200600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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