Variant report

Variant	esv3523758
Chromosome Location	chr4:120013745-120014177
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	chr4:120013479..120014990-chr4:120129629..120131701,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17331353	chr4:120013791-120013792	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11729297	chr4:120013809-120013810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139646935	chr4:120013810-120013811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs71595355	chr4:120013813-120013814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2014993	chr4:120013824-120013825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11943321	chr4:120013827-120013828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34175584	chr4:120013837-120013838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76664398	chr4:120013838-120013839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530024358	chr4:120013847-120013848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569722857	chr4:120013850-120013851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372099356	chr4:120013851-120013852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541901805	chr4:120013854-120013855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185359549	chr4:120013887-120013888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531034183	chr4:120013901-120013902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188790808	chr4:120013913-120013914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543381144	chr4:120013927-120013928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563496259	chr4:120013952-120013953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181542097	chr4:120013970-120013971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552433911	chr4:120013982-120013983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565876233	chr4:120013983-120013984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186417516	chr4:120014012-120014013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552535474	chr4:120014015-120014016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547881798	chr4:120014082-120014083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567776676	chr4:120014083-120014084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190823643	chr4:120014118-120014119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556665744	chr4:120014121-120014122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72908559	chr4:120014133-120014134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566259422	chr4:120014171-120014172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144278683	chr4:120014173-120014174	Weak transcription Enhancers	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
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
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120003400-120014200	Weak transcription	Left Ventricle	heart
2	chr4:120003400-120014400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:120003600-120014600	Weak transcription	Right Atrium	heart
4	chr4:120009000-120017600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:120009200-120014200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:120009200-120014200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:120009200-120019000	Weak transcription	Fetal Intestine Large	intestine
8	chr4:120009400-120014400	Weak transcription	NHEK	skin
9	chr4:120009400-120014600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:120013000-120015400	Enhancers	Stomach Mucosa	stomach
11	chr4:120013200-120014400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:120013200-120015200	Enhancers	HepG2	liver
13	chr4:120013400-120014600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:120013600-120014000	Weak transcription	Pancreas	Pancrea
15	chr4:120013600-120014200	Weak transcription	A549	lung
16	chr4:120014000-120015000	Enhancers	Pancreas	Pancrea

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