Variant report

Variant	nsv980237
Chromosome Location	chr4:107361877-107362954
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	chr4:107349397..107350031-chr4:107362531..107363489,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149114173	chr4:107361882-107361883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565929298	chr4:107361891-107361892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182574165	chr4:107361901-107361902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551455375	chr4:107361910-107361911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571638558	chr4:107361914-107361915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112725428	chr4:107361994-107361995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556712400	chr4:107362022-107362023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567934163	chr4:107362038-107362039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538985982	chr4:107362057-107362058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28650341	chr4:107362111-107362112	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs6813731	chr4:107362170-107362171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs185764346	chr4:107362179-107362180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112883418	chr4:107362184-107362185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375029822	chr4:107362194-107362195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190475789	chr4:107362198-107362199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200262421	chr4:107362245-107362246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575676003	chr4:107362255-107362256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544576924	chr4:107362258-107362259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9990642	chr4:107362272-107362273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs199773756	chr4:107362289-107362290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71590160	chr4:107362332-107362333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138626988	chr4:107362338-107362339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372624604	chr4:107362344-107362345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200727401	chr4:107362345-107362346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373339205	chr4:107362346-107362347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199805557	chr4:107362348-107362349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs70947023	chr4:107362363-107362364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113355236	chr4:107362365-107362366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188559451	chr4:107362379-107362380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542896497	chr4:107362387-107362388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376221850	chr4:107362388-107362389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80039054	chr4:107362389-107362390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528262063	chr4:107362391-107362392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551624614	chr4:107362392-107362393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184033048	chr4:107362395-107362396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571299187	chr4:107362410-107362411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530555588	chr4:107362452-107362453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372926992	chr4:107362470-107362471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377235958	chr4:107362489-107362490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550543965	chr4:107362522-107362523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567199278	chr4:107362528-107362529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536250856	chr4:107362529-107362530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553790611	chr4:107362558-107362559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75108475	chr4:107362606-107362607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546877799	chr4:107362618-107362619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566842273	chr4:107362714-107362715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376915746	chr4:107362812-107362813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146348074	chr4:107362816-107362817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72887233	chr4:107362827-107362828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs558758685	chr4:107362850-107362851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107355400-107366000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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