Variant report

Variant	nsv980142
Chromosome Location	chr4:91751677-91756947
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	chr4:91756249..91758418-chr4:91760131..91762140,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187653	chromatin interactions

Extended variants
information (count: 203 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80310666	chr4:91751710-91751711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138885090	chr4:91751803-91751804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17017714	chr4:91751806-91751807	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs557906991	chr4:91751827-91751828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17017717	chr4:91751895-91751896	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs548222216	chr4:91751900-91751901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148858484	chr4:91751904-91751905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539144858	chr4:91751906-91751907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536872537	chr4:91751935-91751936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17248109	chr4:91751956-91751957	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs570601030	chr4:91751975-91751976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539591411	chr4:91751984-91751985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75765084	chr4:91751999-91752000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572932831	chr4:91752062-91752063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536109351	chr4:91752091-91752092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76989904	chr4:91752126-91752127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575744274	chr4:91752178-91752179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17017719	chr4:91752228-91752229	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs564711809	chr4:91752229-91752230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577011674	chr4:91752243-91752244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549724249	chr4:91752244-91752245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559375025	chr4:91752269-91752270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143494688	chr4:91752284-91752285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548438643	chr4:91752357-91752358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs137903163	chr4:91752403-91752404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374849811	chr4:91752520-91752521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550358185	chr4:91752528-91752529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541730594	chr4:91752534-91752535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539529398	chr4:91752569-91752570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546702760	chr4:91752585-91752586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566828689	chr4:91752622-91752623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34912818	chr4:91752642-91752643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535483296	chr4:91752646-91752647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2904371	chr4:91752692-91752693	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs575840748	chr4:91752714-91752715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191768229	chr4:91752778-91752779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201479734	chr4:91752826-91752827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs60366873	chr4:91752898-91752899	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs545880763	chr4:91752899-91752900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559513842	chr4:91752914-91752915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79623946	chr4:91752926-91752927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185448734	chr4:91752934-91752935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189925563	chr4:91752996-91752997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs62311109	chr4:91753013-91753014	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs114460715	chr4:91753058-91753059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546586869	chr4:91753105-91753106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375915759	chr4:91753135-91753136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs62311110	chr4:91753141-91753142	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs9790785	chr4:91753149-91753150	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs546641546	chr4:91753172-91753173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Multiple myeloma	17550852	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
Breast cancer	22522925	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	21272361	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91735600-91754200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:91736400-91753600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:91746200-91761400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:91749800-91754600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:91750800-91752400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr4:91751000-91752000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:91751000-91752400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:91751000-91753200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:91751000-91754400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:91751600-91754400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:91751800-91753000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr4:91752000-91752200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr4:91752000-91752400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr4:91752200-91752800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:91752400-91754200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:91752400-91754400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr4:91752400-91754600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:91752400-91775000	Weak transcription	Pancreas	Pancrea
19	chr4:91753000-91753400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:91753200-91754200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:91753400-91754400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr4:91753600-91754600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:91754200-91754400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr4:91754200-91754600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:91754200-91755400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr4:91754200-91756000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr4:91754400-91754800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr4:91754400-91754800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr4:91754400-91754800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr4:91754400-91754800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr4:91754400-91755200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:91754600-91755000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr4:91754600-91755400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:91754600-91756000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr4:91754600-91771400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:91754800-91755000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr4:91754800-91755200	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr4:91754800-91755400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:91754800-91755400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr4:91754800-91755600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr4:91754800-91755800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr4:91755000-91755200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr4:91755000-91755200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr4:91755200-91755400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr4:91755200-91755400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr4:91755200-91755600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr4:91755400-91756000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr4:91755400-91756000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr4:91755400-91758200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr4:91755600-91756200	Enhancers	HUES48 Cell Line	embryonic stem cell

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