Variant report

Variant	esv3435375
Chromosome Location	chr4:93638029-93640927
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	chr4:93640334..93641891-chr4:93646345..93648572,2	MCF-7	breast:

Extended variants
information (count: 118 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537940177	chr4:93638034-93638035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551631541	chr4:93638042-93638043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192512494	chr4:93638044-93638045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529885193	chr4:93638050-93638051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202122678	chr4:93638054-93638055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147184333	chr4:93638065-93638066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573146717	chr4:93638108-93638109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184203448	chr4:93638124-93638125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535775827	chr4:93638158-93638159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555583524	chr4:93638181-93638182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575547120	chr4:93638193-93638194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544290171	chr4:93638200-93638201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140004612	chr4:93638218-93638219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188998848	chr4:93638220-93638221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577686272	chr4:93638231-93638232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539821711	chr4:93638236-93638237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560124505	chr4:93638247-93638248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548371306	chr4:93638264-93638265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529530896	chr4:93638283-93638284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12501433	chr4:93638285-93638286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs374148662	chr4:93638288-93638289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113355903	chr4:93638312-93638313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181094970	chr4:93638337-93638338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186262334	chr4:93638361-93638362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189979852	chr4:93638384-93638385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547452991	chr4:93638403-93638404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567697796	chr4:93638417-93638418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17019814	chr4:93638479-93638480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs555742722	chr4:93638519-93638520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142861095	chr4:93638556-93638557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs151045743	chr4:93638581-93638582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577644667	chr4:93638621-93638622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139687809	chr4:93638622-93638623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552263090	chr4:93638624-93638625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373317620	chr4:93638634-93638635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553343760	chr4:93638664-93638665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370603903	chr4:93638689-93638690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573349914	chr4:93638730-93638731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180820056	chr4:93638734-93638735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562802688	chr4:93638850-93638851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535317632	chr4:93638855-93638856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532045612	chr4:93638971-93638972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1009506	chr4:93638998-93638999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565138472	chr4:93639052-93639053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73837327	chr4:93639056-93639057	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs376785796	chr4:93639112-93639113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77887334	chr4:93639131-93639132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186269356	chr4:93639185-93639186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547355949	chr4:93639230-93639231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547908775	chr4:93639231-93639232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Bipolar disorder	19114987	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93630200-93655400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:93633000-93646000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:93636000-93653600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr4:93636000-93687200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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