Variant report

Variant	nsv1005819
Chromosome Location	chr4:97930860-97957312
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	chr4:97944767..97947147-chr4:97952027..97954055,2	MCF-7	breast:
2	chr4:97944767..97947147-chr4:97952027..97954055,2	MCF-7	breast:

Extended variants
information (count: 656 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:656 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17026245	chr4:97930860-97930861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376731839	chr4:97930877-97930878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570434440	chr4:97930909-97930910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72674069	chr4:97930910-97930911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549881640	chr4:97930940-97930941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17026248	chr4:97930958-97930959	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs115509653	chr4:97930974-97930975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374450444	chr4:97931011-97931012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114550631	chr4:97931050-97931051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553616310	chr4:97931108-97931109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556226527	chr4:97931122-97931123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17026251	chr4:97931148-97931149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs371794544	chr4:97931181-97931182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147496698	chr4:97931213-97931214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560784502	chr4:97931230-97931231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575991799	chr4:97931269-97931270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28522692	chr4:97931368-97931369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs981544	chr4:97931374-97931375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs555878661	chr4:97931398-97931399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574043443	chr4:97931399-97931400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373445292	chr4:97931401-97931402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574408756	chr4:97931404-97931405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541623919	chr4:97931484-97931485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559940651	chr4:97931545-97931546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533689592	chr4:97931552-97931553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76127500	chr4:97931586-97931587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72874604	chr4:97931655-97931656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs531366141	chr4:97931711-97931712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549508291	chr4:97931728-97931729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568187874	chr4:97931731-97931732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528939738	chr4:97931736-97931737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1018950	chr4:97931763-97931764	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs565508307	chr4:97931802-97931803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539362252	chr4:97931829-97931830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78182134	chr4:97931844-97931845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569615083	chr4:97931847-97931848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140198076	chr4:97931911-97931912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555437458	chr4:97931912-97931913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555074562	chr4:97931975-97931976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573740340	chr4:97931985-97931986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574084813	chr4:97931998-97931999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534781768	chr4:97932050-97932051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376268488	chr4:97932103-97932104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145622694	chr4:97932109-97932110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1018951	chr4:97932147-97932148	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs578233524	chr4:97932247-97932248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1018952	chr4:97932258-97932259	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs116438083	chr4:97932268-97932269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371809565	chr4:97932282-97932283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575838502	chr4:97932299-97932300	Enhancers 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
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

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:97928800-97936200	Weak transcription	Fetal Brain Male	brain
2	chr4:97930600-97934000	Weak transcription	Fetal Intestine Large	intestine
3	chr4:97931800-97932400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:97933800-97934200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr4:97933800-97935600	Enhancers	Fetal Intestine Small	intestine
6	chr4:97934000-97935600	Enhancers	Fetal Intestine Large	intestine
7	chr4:97934200-97934600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:97934600-97935200	Enhancers	Fetal Kidney	kidney
9	chr4:97934600-97936000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr4:97935200-97937600	Weak transcription	Fetal Kidney	kidney
11	chr4:97936000-97936400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:97936200-97936400	Enhancers	Fetal Brain Male	brain
13	chr4:97936400-97936600	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr4:97936400-97936800	Weak transcription	Fetal Brain Male	brain
15	chr4:97936600-97937400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr4:97936800-97937200	Enhancers	Fetal Brain Male	brain
17	chr4:97937000-97938200	Enhancers	Fetal Brain Female	brain
18	chr4:97937000-97938600	Enhancers	Dnd41	blood
19	chr4:97937400-97938600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr4:97937600-97938000	Enhancers	Fetal Kidney	kidney
21	chr4:97947200-97949200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr4:97948200-97948400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr4:97948200-97948400	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr4:97948200-97948800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:97948200-97949600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:97948400-97949400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr4:97948400-97953400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr4:97948600-97949000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr4:97948600-97949600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:97948600-97950000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:97948600-97950000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr4:97949400-97949600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr4:97949600-97950400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:97949600-97958800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr4:97950000-97950400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:97950000-97950400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:97950400-97950600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr4:97950600-97952200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr4:97952200-97952400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr4:97953400-97954200	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr4:97953600-97954000	Enhancers	Aorta	Aorta

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