Variant report

Variant	nsv879588
Chromosome Location	chr4:92603015-92689259
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:89306981..89307680-chr4:92635846..92636574,2	MCF-7	breast:
2	chr4:92649464..92651523-chr4:92652088..92654167,2	MCF-7	breast:
3	chr4:92649464..92651523-chr4:92652088..92654167,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165533	chromatin interactions

Extended variants
information (count: 828 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:828 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13111039	chr4:92603015-92603016	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572876350	chr4:92603018-92603019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541939446	chr4:92603054-92603055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542977580	chr4:92603055-92603056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544851914	chr4:92603100-92603101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544919070	chr4:92603120-92603121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561529571	chr4:92603142-92603143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186988015	chr4:92603157-92603158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs578040308	chr4:92603175-92603176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540282526	chr4:92603185-92603186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564112650	chr4:92614401-92614402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs150978916	chr4:92614428-92614429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs374559468	chr4:92614481-92614482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs538525461	chr4:92614534-92614535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs140517997	chr4:92614551-92614552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs534639072	chr4:92614552-92614553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs113295784	chr4:92614559-92614560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs11736982	chr4:92614591-92614592	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs536417957	chr4:92614663-92614664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555260597	chr4:92614694-92614695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183490375	chr4:92614707-92614708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370280174	chr4:92614717-92614718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575352363	chr4:92614745-92614746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544456029	chr4:92614751-92614752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564240897	chr4:92614757-92614758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116063056	chr4:92614771-92614772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540213894	chr4:92614789-92614790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560228057	chr4:92614800-92614801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568331411	chr4:92614813-92614814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528991735	chr4:92614861-92614862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114275479	chr4:92614886-92614887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563049821	chr4:92614938-92614939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150014284	chr4:92614952-92614953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571628565	chr4:92614957-92614958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528005964	chr4:92614961-92614962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547370912	chr4:92614972-92614973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567369773	chr4:92614978-92614979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114801737	chr4:92614991-92614992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556392901	chr4:92615018-92615019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569000930	chr4:92615052-92615053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537668871	chr4:92615055-92615056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550059678	chr4:92615069-92615070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557962800	chr4:92615108-92615109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577988999	chr4:92615152-92615153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540576658	chr4:92615167-92615168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553797159	chr4:92615186-92615187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575135098	chr4:92615203-92615204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4491982	chr4:92615216-92615217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs542664586	chr4:92615237-92615238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537856006	chr4:92615239-92615240	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
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
lymphocytic leukemia	21291569	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92601800-92603200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:92602600-92603200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:92614400-92614600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
4	chr4:92614600-92615000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:92614600-92615000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:92614600-92617000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:92614800-92615000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:92614800-92615200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:92615000-92617600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:92615200-92617600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:92617000-92617200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr4:92617600-92617800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:92617600-92618000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:92622400-92622600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:92622600-92622800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:92628800-92629400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:92629000-92629400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:92653200-92653400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:92659600-92662000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:92661800-92662200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:92661800-92662400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:92662000-92662400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:92662200-92662400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:92662400-92667800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:92666200-92666400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:92666400-92667600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:92667600-92667800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:92667800-92668200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:92668200-92668400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:92676400-92677400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:92677000-92678200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:92677400-92679200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:92677800-92680600	Enhancers	HUVEC	blood vessel
34	chr4:92678200-92679800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:92679000-92680200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:92679200-92680600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:92679600-92680200	Enhancers	NH-A	brain
38	chr4:92679800-92680200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:92679800-92680200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:92680000-92680400	Enhancers	Hela-S3	cervix
41	chr4:92680200-92680600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:92686200-92686800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr4:92686400-92687000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr4:92686600-92687000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr4:92686800-92687200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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