Variant report

Variant	esv3331365
Chromosome Location	chr4:148015652-148017850
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:147939974..147940929-chr4:148017718..148018845,5	MCF-7	breast:
2	chr4:147939981..147941106-chr4:148014945..148015994,5	MCF-7	breast:
3	chr4:147940120..147940905-chr4:148014962..148015896,2	MCF-7	breast:
4	chr4:147939977..147940938-chr4:148015247..148015842,2	MCF-7	breast:

Extended variants
information (count: 174 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565535570	chr4:148015668-148015669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534758010	chr4:148015677-148015678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188099483	chr4:148015780-148015781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568074087	chr4:148015827-148015828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536612721	chr4:148015841-148015842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11934394	chr4:148015862-148015863	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs191604061	chr4:148015890-148015891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540040759	chr4:148015900-148015901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553649889	chr4:148015917-148015918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184135963	chr4:148015953-148015954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11944039	chr4:148015991-148015992	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs11935350	chr4:148016078-148016079	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs541990703	chr4:148016161-148016162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575611654	chr4:148016178-148016179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545704824	chr4:148016237-148016238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59507272	chr4:148016275-148016276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563245056	chr4:148016286-148016287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370251554	chr4:148016290-148016291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11935438	chr4:148016310-148016311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs188806134	chr4:148016393-148016394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545684837	chr4:148016420-148016421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61415692	chr4:148016446-148016447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs528250257	chr4:148016451-148016452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565654508	chr4:148016458-148016459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544004370	chr4:148016461-148016462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199609554	chr4:148016463-148016464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs60927335	chr4:148016469-148016470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547303246	chr4:148016475-148016476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs58432214	chr4:148016495-148016496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372190700	chr4:148016497-148016498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28495009	chr4:148016503-148016504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530534520	chr4:148016504-148016505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13114316	chr4:148016508-148016509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13132460	chr4:148016513-148016514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570458871	chr4:148016516-148016517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540176321	chr4:148016517-148016518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181751689	chr4:148016528-148016529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186640686	chr4:148016533-148016534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535640927	chr4:148016535-148016536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555839869	chr4:148016536-148016537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575602752	chr4:148016537-148016538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13114335	chr4:148016538-148016539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551173717	chr4:148016539-148016540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13134173	chr4:148016544-148016545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544299442	chr4:148016546-148016547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557773746	chr4:148016548-148016549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28488897	chr4:148016551-148016552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28649387	chr4:148016552-148016553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558313286	chr4:148016553-148016554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577601616	chr4:148016556-148016557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148009800-148017400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:148010000-148017000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:148010000-148022800	Weak transcription	NHLF	lung
4	chr4:148010200-148017800	Weak transcription	Osteobl	bone
5	chr4:148010400-148021200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:148010800-148018000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:148013200-148016800	Weak transcription	Fetal Heart	heart
8	chr4:148014800-148017600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:148015000-148016200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:148015600-148016200	Enhancers	Hela-S3	cervix
11	chr4:148016200-148017200	Weak transcription	Hela-S3	cervix
12	chr4:148016200-148017400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:148016800-148017800	Enhancers	Fetal Heart	heart
14	chr4:148017000-148018800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:148017200-148018400	Enhancers	Hela-S3	cervix
16	chr4:148017400-148017600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:148017400-148017600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:148017400-148018000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:148017400-148018000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:148017400-148018000	Enhancers	Adipose Nuclei	Adipose
21	chr4:148017600-148018600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr4:148017600-148019000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:148017600-148022600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:148017600-148023000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:148017800-148018400	Enhancers	Osteobl	bone

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