Variant report

Variant	esv3363705
Chromosome Location	chr4:90077429-90079827
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	chr4:90079815..90080591-chr4:90355230..90356029,2	MCF-7	breast:

Extended variants
information (count: 124 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7672894	chr4:90077431-90077432	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375471785	chr4:90077471-90077472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141676108	chr4:90077475-90077476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs57987710	chr4:90077522-90077523	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs567968519	chr4:90077562-90077563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189815835	chr4:90077590-90077591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78860683	chr4:90077595-90077596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115044622	chr4:90077600-90077601	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs550461473	chr4:90077621-90077622	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs557799047	chr4:90077622-90077623	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs147032526	chr4:90077672-90077673	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs572860134	chr4:90077677-90077678	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs67283932	chr4:90077718-90077719	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs540177273	chr4:90077721-90077722	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs528004778	chr4:90077741-90077742	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs62304660	chr4:90077751-90077752	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs114500237	chr4:90077803-90077804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569148061	chr4:90077819-90077820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368976645	chr4:90077823-90077824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138260102	chr4:90077852-90077853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113078398	chr4:90077881-90077882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58717304	chr4:90077882-90077883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56325804	chr4:90077888-90077889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397758687	chr4:90077895-90077896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552515044	chr4:90077936-90077937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564566593	chr4:90077947-90077948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181133322	chr4:90077950-90077951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79013678	chr4:90077986-90077987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149144370	chr4:90078010-90078011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535483781	chr4:90078061-90078062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550429752	chr4:90078080-90078081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186572423	chr4:90078137-90078138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111348265	chr4:90078179-90078180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374436662	chr4:90078191-90078192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149159794	chr4:90078192-90078193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57998284	chr4:90078211-90078212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56289964	chr4:90078213-90078214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6831818	chr4:90078219-90078220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369438632	chr4:90078221-90078222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200985448	chr4:90078252-90078253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539578168	chr4:90078263-90078264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35160360	chr4:90078273-90078274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs566704479	chr4:90078280-90078281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112739616	chr4:90078303-90078304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533862555	chr4:90078310-90078311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555536588	chr4:90078384-90078385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539909123	chr4:90078432-90078433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202057908	chr4:90078433-90078434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573658427	chr4:90078442-90078443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11737657	chr4:90078476-90078477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	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
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90070200-90079000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:90074600-90078800	Weak transcription	A549	lung
3	chr4:90077400-90077600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:90077600-90077800	Bivalent Enhancer	Stomach Mucosa	stomach
5	chr4:90077800-90079000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:90078800-90079000	Enhancers	A549	lung
7	chr4:90079000-90079400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:90079000-90079400	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr4:90079000-90079400	Weak transcription	A549	lung
10	chr4:90079000-90085200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:90079400-90080000	Enhancers	A549	lung
12	chr4:90079600-90079800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:90079600-90079800	Enhancers	Fetal Lung	lung
14	chr4:90079800-90080200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:90079800-90080200	Active TSS	Brain Anterior Caudate	brain
16	chr4:90079800-90080200	Active TSS	Brain Hippocampus Middle	brain
17	chr4:90079800-90080200	Enhancers	HUVEC	blood vessel

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