Variant report

Variant	esv3401595
Chromosome Location	chr1:152313328-152316726
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:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:152307475..152309601-chr1:152314750..152316743,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LCE5A-2	chr1:152313563-152313686	NONHSAT006480
2	lnc-LCE5A-2	chr1:152313563-152313686	NONHSAT006483
3	lnc-LCE5A-2	chr1:152313563-152313586	ENSG00000237975
4	lnc-LCE5A-2	chr1:152313563-152313686	ENSG00000237975
5	lnc-LCE5A-2	chr1:152313563-152313686	ENSG00000237975

No data

Variant related genes	Relation type
ENSG00000237975	chromatin interactions
PDSS1	miRNA target sites
KIAA1530	miRNA target sites
SCD	miRNA target sites

Extended variants
information (count: 93 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111374193	chr1:152313338-152313339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573193817	chr1:152313382-152313383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541519660	chr1:152313394-152313395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76331471	chr1:152313415-152313416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182246477	chr1:152313442-152313443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543262875	chr1:152313484-152313485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552660380	chr1:152313681-152313682	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs28465177	chr1:152313705-152313706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142118677	chr1:152313712-152313713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186173153	chr1:152313717-152313718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75565333	chr1:152313726-152313727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565689314	chr1:152313767-152313768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73007776	chr1:152313770-152313771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372375436	chr1:152313808-152313809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74228578	chr1:152313820-152313821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151156971	chr1:152313880-152313881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550432146	chr1:152313889-152313890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77782478	chr1:152313894-152313895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539363171	chr1:152313922-152313923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558940929	chr1:152313958-152313959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13375825	chr1:152313995-152313996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191024352	chr1:152314011-152314012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528565499	chr1:152314021-152314022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569275150	chr1:152314092-152314093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139064184	chr1:152314097-152314098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181537276	chr1:152314187-152314188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs3126099	chr1:152314219-152314220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs563156334	chr1:152314243-152314244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576598535	chr1:152314246-152314247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546081445	chr1:152314270-152314271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145018534	chr1:152314299-152314300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565165507	chr1:152314307-152314308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112557515	chr1:152314309-152314310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530639088	chr1:152314315-152314316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372691897	chr1:152314356-152314357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186052894	chr1:152314467-152314468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74127927	chr1:152314543-152314544	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs200510068	chr1:152314621-152314622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538817975	chr1:152314645-152314646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552730274	chr1:152314660-152314661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111270249	chr1:152314665-152314666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7354940	chr1:152314677-152314678	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs554698023	chr1:152314770-152314771	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs35484620	chr1:152314810-152314811	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs574455716	chr1:152314822-152314823	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs116987305	chr1:152314912-152314913	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs556986845	chr1:152314955-152314956	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs532523375	chr1:152315040-152315041	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs191248153	chr1:152315061-152315062	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs115397408	chr1:152315078-152315079	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152286600-152322200	Weak transcription	Ovary	ovary
2	chr1:152312400-152323800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:152314400-152317400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:152315600-152315800	Enhancers	Fetal Lung	lung
5	chr1:152316600-152317400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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