Variant report

Variant	esv1834237
Chromosome Location	chr4:98333918-98357815
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	chr4:98356561..98358101-chr4:98363641..98366238,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17026725	chr4:98333918-98333919	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs151258154	chr4:98333919-98333920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541093792	chr4:98333937-98333938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559404378	chr4:98333945-98333946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115702629	chr4:98333969-98333970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536088341	chr4:98334001-98334002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545069477	chr4:98334011-98334012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563742680	chr4:98334096-98334097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531067665	chr4:98334119-98334120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549699119	chr4:98334171-98334172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561437159	chr4:98334172-98334173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs58393302	chr4:98334193-98334194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528710229	chr4:98334199-98334200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs58539905	chr4:98334245-98334246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62315833	chr4:98334255-98334256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75633038	chr4:98334257-98334258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540823070	chr4:98334261-98334262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547244860	chr4:98334361-98334362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72885556	chr4:98334427-98334428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539564120	chr4:98334452-98334453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551053009	chr4:98334516-98334517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192214740	chr4:98334535-98334536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182236163	chr4:98334580-98334581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540930947	chr4:98335407-98335408	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs141279855	chr4:98335457-98335458	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs372623410	chr4:98335464-98335465	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs532759158	chr4:98335531-98335532	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs544515092	chr4:98335535-98335536	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs563376086	chr4:98335557-98335558	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs530564172	chr4:98335563-98335564	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs111908965	chr4:98335570-98335571	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs369791628	chr4:98335579-98335580	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs184842724	chr4:98335588-98335589	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs566929634	chr4:98335656-98335657	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs545736579	chr4:98335657-98335658	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs563921740	chr4:98335672-98335673	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs546895521	chr4:98335682-98335683	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs571320240	chr4:98335698-98335699	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs79368745	chr4:98335712-98335713	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs556925001	chr4:98335717-98335718	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs111983402	chr4:98335741-98335742	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs144785922	chr4:98335746-98335747	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs554957008	chr4:98335753-98335754	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs573299870	chr4:98335755-98335756	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs540897854	chr4:98335779-98335780	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs80221290	chr4:98335790-98335791	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	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
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	19197363	CNVD
Melanoma	20688739	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:98332800-98334600	Enhancers	Liver	Liver
2	chr4:98335400-98335800	Active TSS	Fetal Heart	heart

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