Variant report

Variant	esv3390263
Chromosome Location	chr4:80274196-80274373
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	chr16:33957128..33958102-chr4:80274126..80274833,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577368489	chr4:80274209-80274210	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs546023397	chr4:80274212-80274213	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs202008990	chr4:80274244-80274245	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs560512180	chr4:80274246-80274247	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs111205093	chr4:80274256-80274257	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs535860651	chr4:80274260-80274261	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs143010030	chr4:80274262-80274263	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs111205094	chr4:80274269-80274270	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs201567000	chr4:80274272-80274273	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs62643493	chr4:80274305-80274306	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs111066819	chr4:80274312-80274313	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs145083936	chr4:80274313-80274314	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs531826534	chr4:80274319-80274320	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs111215482	chr4:80274322-80274323	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs62643494	chr4:80274323-80274324	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs529948238	chr4:80274344-80274345	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs374098081	chr4:80274346-80274347	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs202108813	chr4:80274359-80274360	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs145692914	chr4:80274363-80274364	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
lymphocytic leukemia	21291569	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
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Myelodysplastic syndrome	18508791	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80273400-80274400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
2	chr4:80273400-80274400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:80273400-80274800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:80273400-80274800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:80273400-80274800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:80273400-80274800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:80273400-80274800	ZNF genes & repeats	Primary B cells from cord blood	blood
8	chr4:80273400-80274800	ZNF genes & repeats	Primary T cells from cord blood	blood
9	chr4:80273400-80274800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
10	chr4:80273400-80274800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
11	chr4:80273400-80274800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:80273400-80274800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
13	chr4:80273400-80274800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr4:80273400-80274800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:80273400-80274800	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr4:80273400-80274800	ZNF genes & repeats	Colon Smooth Muscle	Colon
17	chr4:80273400-80274800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr4:80273400-80274800	ZNF genes & repeats	Ovary	ovary
19	chr4:80273400-80274800	ZNF genes & repeats	HUVEC	blood vessel
20	chr4:80273600-80274400	ZNF genes & repeats	Fetal Stomach	stomach
21	chr4:80273600-80274400	Bivalent/Poised TSS	Left Ventricle	heart
22	chr4:80273600-80274400	Bivalent Enhancer	NHLF	lung
23	chr4:80273600-80274600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
24	chr4:80273600-80274600	Bivalent Enhancer	Right Ventricle	heart
25	chr4:80273600-80274800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
26	chr4:80273600-80274800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
27	chr4:80273600-80274800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:80273600-80274800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:80273600-80274800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
30	chr4:80273600-80274800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
31	chr4:80273600-80274800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
32	chr4:80273600-80274800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:80273600-80274800	ZNF genes & repeats	Brain Angular Gyrus	brain
34	chr4:80273600-80274800	ZNF genes & repeats	Brain Anterior Caudate	brain
35	chr4:80273600-80274800	ZNF genes & repeats	Brain Substantia Nigra	brain
36	chr4:80273600-80274800	ZNF genes & repeats	Colonic Mucosa	Colon
37	chr4:80273600-80274800	ZNF genes & repeats	Fetal Brain Male	brain
38	chr4:80273600-80274800	ZNF genes & repeats	Fetal Heart	heart
39	chr4:80273600-80274800	ZNF genes & repeats	Fetal Kidney	kidney
40	chr4:80273600-80274800	ZNF genes & repeats	Fetal Lung	lung
41	chr4:80273600-80274800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
42	chr4:80273600-80274800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
43	chr4:80273600-80274800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
44	chr4:80273600-80274800	ZNF genes & repeats	Small Intestine	intestine
45	chr4:80273600-80274800	ZNF genes & repeats	Stomach Mucosa	stomach
46	chr4:80273600-80274800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
47	chr4:80273600-80274800	ZNF genes & repeats	Thymus	Thymus
48	chr4:80273600-80274800	ZNF genes & repeats	Spleen	Spleen
49	chr4:80273600-80274800	ZNF genes & repeats	GM12878-XiMat	blood
50	chr4:80273600-80274800	ZNF genes & repeats	HSMMtube	muscle

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