Variant report

Variant	nsv968778
Chromosome Location	chr4:85916573-85919150
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	chr4:85915588..85918291-chr4:85935086..85938051,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186581130	chr4:85916593-85916594	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs115715403	chr4:85916664-85916665	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370872058	chr4:85916714-85916715	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138829571	chr4:85916774-85916775	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375749097	chr4:85916778-85916779	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551060951	chr4:85916789-85916790	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114106320	chr4:85916810-85916811	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573148154	chr4:85916848-85916849	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567713290	chr4:85916873-85916874	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs193287963	chr4:85916916-85916917	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149365432	chr4:85916948-85916949	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556757113	chr4:85916974-85916975	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143769820	chr4:85916988-85916989	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6824288	chr4:85917029-85917030	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs148151593	chr4:85917071-85917072	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs370773979	chr4:85917072-85917073	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs142932319	chr4:85917086-85917087	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs553171260	chr4:85917114-85917115	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs561414007	chr4:85917136-85917137	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs369797488	chr4:85917166-85917167	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs531683786	chr4:85917211-85917212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549878541	chr4:85917316-85917317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112270403	chr4:85917418-85917419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562295544	chr4:85917465-85917466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185423636	chr4:85917484-85917485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551252219	chr4:85917496-85917497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146162823	chr4:85917508-85917509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533758330	chr4:85917548-85917549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548672370	chr4:85917549-85917550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190331045	chr4:85917602-85917603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537896655	chr4:85917618-85917619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556299916	chr4:85917626-85917627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115919241	chr4:85917689-85917690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539282118	chr4:85917734-85917735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs367851035	chr4:85917796-85917797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4383611	chr4:85917808-85917809	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs543328524	chr4:85917826-85917827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554632637	chr4:85917851-85917852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576038407	chr4:85917859-85917860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543507531	chr4:85917860-85917861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565077757	chr4:85917863-85917864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532943570	chr4:85917878-85917879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544831131	chr4:85917942-85917943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560314648	chr4:85917944-85917945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs199904108	chr4:85918021-85918022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574323918	chr4:85918112-85918113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140162557	chr4:85918148-85918149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377257829	chr4:85918167-85918168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370629019	chr4:85918182-85918183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141550929	chr4:85918188-85918189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85906800-85927200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:85913400-85926800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:85915800-85916800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:85915800-85916800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:85915800-85935600	Weak transcription	Aorta	Aorta
6	chr4:85916000-85917000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:85916200-85916600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:85916400-85917000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:85916600-85917200	Enhancers	HSMMtube	muscle
10	chr4:85916800-85917200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:85916800-85917200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:85916800-85917200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr4:85917000-85917200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:85917000-85918200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:85917200-85917400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:85917200-85919600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:85918200-85919000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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