Variant report

Variant	esv3398450
Chromosome Location	chr4:147082602-147086400
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	chr4:147076257..147079097-chr4:147084297..147086831,2	MCF-7	breast:

Extended variants
information (count: 158 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564030233	chr4:147082665-147082666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs533529853	chr4:147082681-147082682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs150315639	chr4:147082718-147082719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs77191324	chr4:147082761-147082762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs77482953	chr4:147082769-147082770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs190197106	chr4:147082773-147082774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs138001058	chr4:147082811-147082812	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs558455606	chr4:147082818-147082819	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs562589032	chr4:147082848-147082849	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs557859272	chr4:147082895-147082896	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs531610641	chr4:147082902-147082903	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs551809617	chr4:147082927-147082928	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs571664240	chr4:147082931-147082932	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs539588593	chr4:147082956-147082957	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs181418029	chr4:147083048-147083049	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs149452395	chr4:147083097-147083098	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs535790350	chr4:147083098-147083099	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs555400458	chr4:147083123-147083124	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs575132372	chr4:147083157-147083158	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs186006863	chr4:147083163-147083164	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs190770531	chr4:147083212-147083213	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs143909754	chr4:147083229-147083230	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs9993900	chr4:147083281-147083282	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs560355265	chr4:147083320-147083321	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs573991278	chr4:147083331-147083332	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs139753472	chr4:147083403-147083404	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs143019362	chr4:147083449-147083450	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs183910718	chr4:147083501-147083502	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs188860308	chr4:147083538-147083539	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs72727930	chr4:147083623-147083624	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs527820302	chr4:147083635-147083636	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs10004526	chr4:147083655-147083656	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs190851216	chr4:147083661-147083662	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs7671076	chr4:147083673-147083674	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs75805348	chr4:147083796-147083797	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs140115886	chr4:147083868-147083869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182617173	chr4:147083918-147083919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557496866	chr4:147083937-147083938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116404655	chr4:147083994-147083995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533686363	chr4:147084046-147084047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539445907	chr4:147084047-147084048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60979195	chr4:147084059-147084060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368251671	chr4:147084065-147084066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs67231970	chr4:147084066-147084067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs70956896	chr4:147084085-147084086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61376755	chr4:147084087-147084088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371050946	chr4:147084096-147084097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7695713	chr4:147084097-147084098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7695714	chr4:147084099-147084100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111272558	chr4:147084106-147084107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Intellectual disability	22102821	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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21633010	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147082400-147083800	ZNF genes & repeats	GM12878-XiMat	blood
2	chr4:147082800-147086600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:147083800-147086200	Weak transcription	GM12878-XiMat	blood
4	chr4:147086400-147087600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr4:147086400-147087800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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