Variant report

Variant	esv3388043
Chromosome Location	chr4:102669329-102672427
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	chr4:102668209..102669910-chr4:102674187..102676043,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116305847	chr4:102669331-102669332	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183264204	chr4:102669340-102669341	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187948736	chr4:102669349-102669350	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191554272	chr4:102669375-102669376	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111320434	chr4:102669378-102669379	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183811712	chr4:102669399-102669400	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536815642	chr4:102669401-102669402	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138643643	chr4:102669406-102669407	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376161878	chr4:102669475-102669476	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113131130	chr4:102669485-102669486	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187897212	chr4:102669499-102669500	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141649288	chr4:102669562-102669563	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553273988	chr4:102669607-102669608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531845993	chr4:102669618-102669619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192956892	chr4:102669637-102669638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183670549	chr4:102669705-102669706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563347626	chr4:102669777-102669778	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102667800-102669600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:102668200-102669800	Enhancers	Primary B cells from peripheral blood	blood
3	chr4:102669400-102669800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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