Variant report

Variant	esv2757973
Chromosome Location	chr4:189084287-189263528
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:189039532..189042082-chr4:189115720..189117330,2	MCF-7	breast:
2	chr4:188914670..188915671-chr4:189167438..189168869,4	MCF-7	breast:
3	chr4:189099993..189102001-chr4:189104898..189106800,2	MCF-7	breast:
4	chr4:189099993..189102001-chr4:189104898..189106800,2	MCF-7	breast:
5	chr2:190420060..190420825-chr4:189116929..189117774,2	MCF-7	breast:
6	chr1:171180730..171183096-chr4:189101938..189104230,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIML1-2	chr4:189096292-189096511	NONHSAT099736
2	lnc-TRIML1-2	chr4:189099276-189099524	NONHSAT099736
3	lnc-TRIML2-8	chr4:189222763-189222834	NONHSAT099739
4	lnc-TRIML1-2	chr4:189096293-189096511	XLOC_003833
5	lnc-TRIML2-8	chr4:189219369-189219538	NONHSAT099739
6	lnc-TRIML1-2	chr4:189099277-189099524	XLOC_003833

No data

Variant related genes	Relation type
SSH2	miRNA target sites
SSH1	miRNA target sites

Extended variants
information (count: 7023 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:7023 , 50 per page) page: 1 2 3 4 5 6 7 ... 141

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558948154	chr4:189084294-189084295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534381055	chr4:189084315-189084316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575720788	chr4:189084320-189084321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79412077	chr4:189084327-189084328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561393166	chr4:189084342-189084343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574529049	chr4:189084460-189084461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143303279	chr4:189084488-189084489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191759788	chr4:189084498-189084499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560110545	chr4:189084506-189084507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532389757	chr4:189084507-189084508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6811797	chr4:189084514-189084515	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs117089474	chr4:189084515-189084516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531253347	chr4:189084556-189084557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146662285	chr4:189084611-189084612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568183770	chr4:189084612-189084613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112222777	chr4:189084645-189084646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370881804	chr4:189084650-189084651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112651916	chr4:189084676-189084677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566957714	chr4:189084677-189084678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539300811	chr4:189084728-189084729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555527182	chr4:189084783-189084784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138028618	chr4:189084785-189084786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6812239	chr4:189084791-189084792	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs575684116	chr4:189084795-189084796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538275099	chr4:189084796-189084797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369113731	chr4:189084826-189084827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78547840	chr4:189084863-189084864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574846481	chr4:189084866-189084867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540372728	chr4:189084874-189084875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559307506	chr4:189084897-189084898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113450043	chr4:189084909-189084910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375944692	chr4:189084914-189084915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73026916	chr4:189084931-189084932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs577003953	chr4:189084942-189084943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79467289	chr4:189084956-189084957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562470610	chr4:189084963-189084964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181780771	chr4:189085020-189085021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186619634	chr4:189085021-189085022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72726910	chr4:189085055-189085056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs190937809	chr4:189085151-189085152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183089436	chr4:189085173-189085174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6813282	chr4:189085306-189085307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs567047946	chr4:189085409-189085410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562350384	chr4:189085412-189085413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529451389	chr4:189085492-189085493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145138529	chr4:189085502-189085503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199750747	chr4:189085544-189085545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569536398	chr4:189085547-189085548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186659233	chr4:189085573-189085574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538559032	chr4:189085576-189085577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Bipolar disorder	19114987	CNVD
Tetralogy of Fallot	22912587	CNVD
Autism	20808228	CNVD
Epilepsy	21635232	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:480 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:189081800-189084600	Enhancers	Placenta	Placenta
2	chr4:189082800-189085200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:189083800-189084400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr4:189084000-189084400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:189084200-189096400	Weak transcription	A549	lung
6	chr4:189089000-189089600	Enhancers	Lung	lung
7	chr4:189089200-189090400	Enhancers	Fetal Brain Female	brain
8	chr4:189090000-189090400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:189090000-189090600	Enhancers	Fetal Brain Male	brain
10	chr4:189090400-189092800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:189092600-189093200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:189092800-189093000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:189092800-189093000	ZNF genes & repeats	Aorta	Aorta
14	chr4:189092800-189094000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:189093000-189093200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr4:189093000-189094000	Weak transcription	Aorta	Aorta
17	chr4:189093200-189098600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr4:189094000-189094200	Enhancers	Aorta	Aorta
19	chr4:189094000-189099200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:189096400-189096600	Enhancers	Hela-S3	cervix
21	chr4:189096400-189096800	Enhancers	A549	lung
22	chr4:189096600-189098600	Weak transcription	Hela-S3	cervix
23	chr4:189096800-189103400	Weak transcription	A549	lung
24	chr4:189098600-189100200	Enhancers	Hela-S3	cervix
25	chr4:189098600-189100400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr4:189099000-189099600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:189099000-189099800	Enhancers	Osteobl	bone
28	chr4:189099000-189100200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:189099200-189100000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:189099600-189100000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:189100000-189100200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:189100000-189100400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:189100000-189100600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:189100200-189101200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:189100200-189102600	Weak transcription	Hela-S3	cervix
36	chr4:189100200-189103600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:189100400-189102600	Weak transcription	Placenta	Placenta
38	chr4:189100600-189104800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:189102600-189104000	Enhancers	Hela-S3	cervix
40	chr4:189103400-189103800	Enhancers	A549	lung
41	chr4:189103600-189104000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:189104800-189105200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:189105200-189117400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:189111400-189112600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:189111400-189112600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:189111600-189112000	Enhancers	Adipose Nuclei	Adipose
47	chr4:189111800-189112200	Enhancers	Osteobl	bone
48	chr4:189111800-189112600	Enhancers	Fetal Stomach	stomach
49	chr4:189112000-189112600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:189112200-189116800	Weak transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links