Variant report

Variant	esv2752048
Chromosome Location	chr4:44970482-45005872
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	chr4:44973261..44975685-chr4:44978154..44979821,2	K562	blood:
3	chr4:44999456..45001286-chr4:45006123..45008246,2	MCF-7	breast:

Extended variants
information (count: 1319 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1319 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7679812	chr4:44970482-44970483	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554229056	chr4:44970487-44970488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188504961	chr4:44970491-44970492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559017193	chr4:44970492-44970493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376263421	chr4:44970504-44970505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527371005	chr4:44970529-44970530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs137887155	chr4:44970530-44970531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149448462	chr4:44970541-44970542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532613005	chr4:44970563-44970564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544858514	chr4:44970606-44970607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143963358	chr4:44970613-44970614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556033195	chr4:44970617-44970618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530099478	chr4:44970629-44970630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148631930	chr4:44970648-44970649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566970563	chr4:44970679-44970680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527740023	chr4:44970688-44970689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571322428	chr4:44970757-44970758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73812456	chr4:44970769-44970770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571388940	chr4:44970783-44970784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34325575	chr4:44970801-44970802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185951694	chr4:44970820-44970821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540938152	chr4:44970830-44970831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556817019	chr4:44970835-44970836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568848162	chr4:44970845-44970846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535837077	chr4:44970853-44970854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142183999	chr4:44970854-44970855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147402633	chr4:44970860-44970861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139816784	chr4:44970873-44970874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558389808	chr4:44970936-44970937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577343891	chr4:44970942-44970943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189576691	chr4:44970943-44970944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145298828	chr4:44970964-44970965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575256149	chr4:44970970-44970971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528399695	chr4:44971033-44971034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147630815	chr4:44971062-44971063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141563913	chr4:44971067-44971068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552023942	chr4:44971114-44971115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374249556	chr4:44971115-44971116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182040063	chr4:44971116-44971117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149976868	chr4:44971135-44971136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377093436	chr4:44971150-44971151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10003399	chr4:44971151-44971152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs532320286	chr4:44971189-44971190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550403037	chr4:44971196-44971197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568809046	chr4:44971197-44971198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561423816	chr4:44971223-44971224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145273160	chr4:44971229-44971230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372348586	chr4:44971237-44971238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149161300	chr4:44971238-44971239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566434862	chr4:44971245-44971246	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:23 , 50 per page) page: 1

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

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