Variant report

Variant	esv2752046
Chromosome Location	chr4:44968572-45005872
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:44973261..44975685-chr4:44978154..44979821,2	K562	blood:
2	chr4:44999456..45001286-chr4:45006123..45008246,2	MCF-7	breast:
3	chr4:44973261..44975685-chr4:44978154..44979821,2	K562	blood:

Extended variants
information (count: 1399 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1399 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541338193	chr4:44968580-44968581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1948587	chr4:44968603-44968604	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs543676155	chr4:44968618-44968619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369125921	chr4:44968640-44968641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561952429	chr4:44968785-44968786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530225730	chr4:44968880-44968881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562967388	chr4:44968892-44968893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74976486	chr4:44968900-44968901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78549449	chr4:44968901-44968902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532955039	chr4:44968925-44968926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549897773	chr4:44968942-44968943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563423012	chr4:44968992-44968993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150946157	chr4:44968994-44968995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs68022841	chr4:44969011-44969012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201007154	chr4:44969014-44969015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139577440	chr4:44969045-44969046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541324994	chr4:44969086-44969087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567619256	chr4:44969107-44969108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368354602	chr4:44969220-44969221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35345808	chr4:44969233-44969234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35975418	chr4:44969235-44969236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532963789	chr4:44969248-44969249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149711689	chr4:44969257-44969258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7672928	chr4:44969268-44969269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539046726	chr4:44969275-44969276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557155280	chr4:44969278-44969279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186903618	chr4:44969295-44969296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191694739	chr4:44969336-44969337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555554817	chr4:44969354-44969355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530257960	chr4:44969366-44969367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541295706	chr4:44969374-44969375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73812455	chr4:44969413-44969414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs372012669	chr4:44969463-44969464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545021633	chr4:44969475-44969476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369328524	chr4:44969487-44969488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35250483	chr4:44969488-44969489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201109830	chr4:44969502-44969503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141423958	chr4:44969508-44969509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182536171	chr4:44969520-44969521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10007607	chr4:44969521-44969522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs561108496	chr4:44969526-44969527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188050100	chr4:44969530-44969531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537643023	chr4:44969557-44969558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531125023	chr4:44969591-44969592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193056557	chr4:44969727-44969728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369509948	chr4:44969736-44969737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11946177	chr4:44969737-44969738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs146447171	chr4:44969782-44969783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375874018	chr4:44969786-44969787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114702207	chr4:44969809-44969810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:44967200-44969400	Enhancers	HMEC	breast
2	chr4:44968000-44975800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:44970200-44971000	Enhancers	Fetal Heart	heart
4	chr4:44975800-44976600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:44984200-44984400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:44984200-44984400	Enhancers	HMEC	breast
7	chr4:44984400-44984800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:44984400-44985200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:44984400-44985400	Weak transcription	HMEC	breast
10	chr4:44985200-44986600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:44985200-44988600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:44985400-44988000	Enhancers	HMEC	breast
13	chr4:44985800-44986400	Enhancers	Fetal Stomach	stomach
14	chr4:44986600-44987800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:44987800-44988400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:44988600-44993400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:44993400-44994000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:44994000-44997000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:44996800-44997400	Enhancers	HMEC	breast
20	chr4:44997000-44998800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:44998000-44998800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:44998000-44998800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr4:44998800-45006200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:45000600-45000800	Enhancers	Placenta Amnion	Placenta Amnion

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