Variant report

Variant	esv3467402
Chromosome Location	chr4:143794085-143801152
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	chr4:143795116..143796880-chr4:143868819..143870461,2	MCF-7	breast:

Extended variants
information (count: 130 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28689569	chr4:143794094-143794095	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370567592	chr4:143794121-143794122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528877522	chr4:143794358-143794359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550686210	chr4:143794365-143794366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568838957	chr4:143794403-143794404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373719080	chr4:143794454-143794455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193232186	chr4:143794457-143794458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552318952	chr4:143794557-143794558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570821729	chr4:143794558-143794559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534942074	chr4:143794651-143794652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553249992	chr4:143794686-143794687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574819549	chr4:143794690-143794691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185743097	chr4:143794705-143794706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557454307	chr4:143794833-143794834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190207899	chr4:143794860-143794861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545993883	chr4:143794866-143794867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557944791	chr4:143794901-143794902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573177237	chr4:143794904-143794905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78544967	chr4:143794928-143794929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111537463	chr4:143794936-143794937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561948341	chr4:143795003-143795004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367784938	chr4:143795050-143795051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528912174	chr4:143795052-143795053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6824743	chr4:143795123-143795124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs181474187	chr4:143795134-143795135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532850336	chr4:143795138-143795139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552359706	chr4:143795163-143795164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73850588	chr4:143795190-143795191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs10030770	chr4:143795271-143795272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs546921330	chr4:143795287-143795288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568635826	chr4:143795298-143795299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553335524	chr4:143795326-143795327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6852412	chr4:143795347-143795348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs557037264	chr4:143795365-143795366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569342771	chr4:143795511-143795512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56007153	chr4:143795512-143795513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539895291	chr4:143795538-143795539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558278695	chr4:143795568-143795569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573114191	chr4:143795578-143795579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371879087	chr4:143795579-143795580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186175822	chr4:143795597-143795598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140356474	chr4:143795608-143795609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111803515	chr4:143795612-143795613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144089107	chr4:143795638-143795639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532942135	chr4:143795660-143795661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544747674	chr4:143795676-143795677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146529696	chr4:143795705-143795706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141113027	chr4:143795779-143795780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528686771	chr4:143795818-143795819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112617807	chr4:143795838-143795839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143793800-143794400	Enhancers	Osteobl	bone
2	chr4:143794000-143794400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:143794000-143795000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr4:143794400-143794800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:143794800-143795000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:143795000-143796600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:143796600-143798000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:143797200-143797400	Enhancers	Osteobl	bone

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