Variant report

Variant	esv3336330
Chromosome Location	chr4:79026578-79034476
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 204 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:204 , 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	rs529754123	chr4:79026581-79026582	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184645516	chr4:79026617-79026618	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566468748	chr4:79026654-79026655	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189483390	chr4:79026661-79026662	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541941016	chr4:79026696-79026697	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561798392	chr4:79026704-79026705	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192856603	chr4:79026710-79026711	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538101379	chr4:79026743-79026744	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554850644	chr4:79026778-79026779	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574484468	chr4:79026795-79026796	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75068388	chr4:79026855-79026856	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138088049	chr4:79026858-79026859	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577300872	chr4:79026868-79026869	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546297598	chr4:79026874-79026875	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565048045	chr4:79026909-79026910	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527888288	chr4:79026925-79026926	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575514456	chr4:79026926-79026927	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544480958	chr4:79026945-79026946	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs386676390	chr4:79026947-79026948	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145986620	chr4:79026948-79026949	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546309791	chr4:79026951-79026952	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13137611	chr4:79026992-79026993	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13119710	chr4:79026996-79026997	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13139228	chr4:79027042-79027043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552252095	chr4:79027044-79027045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569067492	chr4:79027045-79027046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538089211	chr4:79027053-79027054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548470247	chr4:79027054-79027055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568444482	chr4:79027055-79027056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534182179	chr4:79027056-79027057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553848876	chr4:79027070-79027071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13114206	chr4:79027071-79027072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373138111	chr4:79027080-79027081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13139259	chr4:79027082-79027083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13119777	chr4:79027086-79027087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147970369	chr4:79027088-79027089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13139445	chr4:79027120-79027121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111337460	chr4:79027121-79027122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375245653	chr4:79027140-79027141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13119969	chr4:79027144-79027145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540542688	chr4:79027158-79027159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559848282	chr4:79027194-79027195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532142352	chr4:79027209-79027210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372240730	chr4:79027210-79027211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13120175	chr4:79027252-79027253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536310383	chr4:79027266-79027267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368608789	chr4:79027281-79027282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4538518	chr4:79027314-79027315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375876183	chr4:79027405-79027406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367548238	chr4:79027412-79027413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Glioblastoma multiforme	21922591	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
small cell lung cancer	20016488	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
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79019200-79026600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:79022200-79039200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:79025200-79026800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr4:79025600-79026800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr4:79025600-79027000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:79026000-79027000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:79026200-79026800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr4:79026200-79027000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr4:79026200-79027000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr4:79026200-79027000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr4:79026600-79026800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:79027000-79033200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:79027000-79033600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:79027000-79039400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:79033200-79033400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:79033600-79033800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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