Variant report

Variant	nsv1005103
Chromosome Location	chr4:97914293-98011695
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:97944767..97947147-chr4:97952027..97954055,2	MCF-7	breast:
2	chr4:97944767..97947147-chr4:97952027..97954055,2	MCF-7	breast:
3	chr4:97997425..97999591-chr4:98017375..98019216,2	MCF-7	breast:

Extended variants
information (count: 1631 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1631 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10488832	chr4:97914293-97914294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530326450	chr4:97914306-97914307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533850913	chr4:97914307-97914308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565812051	chr4:97914345-97914346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368498659	chr4:97914376-97914377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569467440	chr4:97914424-97914425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145869078	chr4:97914447-97914448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192252430	chr4:97914578-97914579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546261418	chr4:97914579-97914580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554908763	chr4:97914649-97914650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112627842	chr4:97914682-97914683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576590295	chr4:97914690-97914691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532293559	chr4:97914724-97914725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550494181	chr4:97914819-97914820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369161732	chr4:97914852-97914853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201804592	chr4:97914899-97914900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184737514	chr4:97914934-97914935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536534910	chr4:97914935-97914936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148160595	chr4:97914947-97914948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113334454	chr4:97914956-97914957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141857056	chr4:97914959-97914960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534287870	chr4:97914972-97914973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558966233	chr4:97914980-97914981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576414387	chr4:97915003-97915004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577255692	chr4:97915010-97915011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544839697	chr4:97915022-97915023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556461418	chr4:97915027-97915028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72674065	chr4:97915038-97915039	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs533554119	chr4:97915054-97915055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577090961	chr4:97915158-97915159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541062902	chr4:97915159-97915160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138853174	chr4:97915207-97915208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143061051	chr4:97915231-97915232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559301706	chr4:97915284-97915285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543695984	chr4:97915291-97915292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148127704	chr4:97915292-97915293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574882297	chr4:97915293-97915294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190667164	chr4:97915310-97915311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56731642	chr4:97915316-97915317	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs7659471	chr4:97915370-97915371	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs530037885	chr4:97915396-97915397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115728692	chr4:97915446-97915447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114135895	chr4:97915535-97915536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534224332	chr4:97915540-97915541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7659678	chr4:97915542-97915543	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs570954573	chr4:97915630-97915631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184457229	chr4:97915653-97915654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558101156	chr4:97915722-97915723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189284115	chr4:97915733-97915734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549972036	chr4:97915765-97915766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	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
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	19197363	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:97913200-97915000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr4:97913400-97915200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr4:97913400-97915800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:97913600-97915200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr4:97913600-97915200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr4:97913600-97916000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:97913600-97920800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:97913800-97915000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr4:97913800-97915200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr4:97913800-97916000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:97914200-97914600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:97914400-97916000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:97914600-97915400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:97914600-97915800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:97914800-97915200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:97923600-97924000	Enhancers	Dnd41	blood
17	chr4:97924000-97924200	Flanking Active TSS	Dnd41	blood
18	chr4:97924200-97924600	Enhancers	Dnd41	blood
19	chr4:97924600-97925400	Flanking Active TSS	Dnd41	blood
20	chr4:97925200-97925600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:97925400-97926200	Enhancers	Dnd41	blood
22	chr4:97928600-97928800	Enhancers	Fetal Brain Male	brain
23	chr4:97928800-97936200	Weak transcription	Fetal Brain Male	brain
24	chr4:97929400-97930000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:97929400-97930600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr4:97929400-97930600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr4:97930400-97930600	Enhancers	Fetal Intestine Large	intestine
28	chr4:97930600-97934000	Weak transcription	Fetal Intestine Large	intestine
29	chr4:97931800-97932400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:97933800-97934200	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr4:97933800-97935600	Enhancers	Fetal Intestine Small	intestine
32	chr4:97934000-97935600	Enhancers	Fetal Intestine Large	intestine
33	chr4:97934200-97934600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr4:97934600-97935200	Enhancers	Fetal Kidney	kidney
35	chr4:97934600-97936000	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr4:97935200-97937600	Weak transcription	Fetal Kidney	kidney
37	chr4:97936000-97936400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr4:97936200-97936400	Enhancers	Fetal Brain Male	brain
39	chr4:97936400-97936600	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr4:97936400-97936800	Weak transcription	Fetal Brain Male	brain
41	chr4:97936600-97937400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr4:97936800-97937200	Enhancers	Fetal Brain Male	brain
43	chr4:97937000-97938200	Enhancers	Fetal Brain Female	brain
44	chr4:97937000-97938600	Enhancers	Dnd41	blood
45	chr4:97937400-97938600	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr4:97937600-97938000	Enhancers	Fetal Kidney	kidney
47	chr4:97947200-97949200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr4:97948200-97948400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr4:97948200-97948400	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr4:97948200-97948800	Enhancers	HUES6 Cell Line	embryonic stem cell

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