Variant report

Variant	esv3467346
Chromosome Location	chr4:118841028-118842326
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553680612	chr4:118841079-118841080	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs188808174	chr4:118841086-118841087	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs534315492	chr4:118841101-118841102	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs143687036	chr4:118841112-118841113	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs112448346	chr4:118841124-118841125	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs543085390	chr4:118841136-118841137	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs536050380	chr4:118841139-118841140	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs556756048	chr4:118841140-118841141	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs576614565	chr4:118841144-118841145	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs375422709	chr4:118841187-118841188	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs372328053	chr4:118841210-118841211	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs545723229	chr4:118841224-118841225	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs369803008	chr4:118841233-118841234	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs184413041	chr4:118841241-118841242	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs528345494	chr4:118841270-118841271	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs114425659	chr4:118841271-118841272	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs555230068	chr4:118841285-118841286	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs189073953	chr4:118841292-118841293	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs531042373	chr4:118841402-118841403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551078670	chr4:118841407-118841408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376821252	chr4:118841433-118841434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116734609	chr4:118841439-118841440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146831371	chr4:118841485-118841486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182220295	chr4:118841508-118841509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187377904	chr4:118841534-118841535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149079996	chr4:118841552-118841553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554289916	chr4:118841587-118841588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575689265	chr4:118841593-118841594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189375395	chr4:118841654-118841655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113742982	chr4:118841712-118841713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556618821	chr4:118841792-118841793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576675274	chr4:118841793-118841794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545600896	chr4:118841904-118841905	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs553083694	chr4:118841914-118841915	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs181023363	chr4:118841920-118841921	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs186157880	chr4:118841950-118841951	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs190009709	chr4:118841972-118841973	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs182536716	chr4:118841980-118841981	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs185708877	chr4:118841983-118841984	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs190663460	chr4:118842006-118842007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564583311	chr4:118842069-118842070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571697912	chr4:118842070-118842071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184044416	chr4:118842076-118842077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368417449	chr4:118842080-118842081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577184758	chr4:118842090-118842091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560708541	chr4:118842113-118842114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529575854	chr4:118842119-118842120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549638390	chr4:118842123-118842124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567749453	chr4:118842133-118842134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536648069	chr4:118842187-118842188	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Esophageal squamous carcinoma	18350619	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
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	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
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118839400-118842200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr4:118840400-118841600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:118840800-118841200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr4:118840800-118841200	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr4:118841000-118841400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr4:118841200-118841400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr4:118841200-118842200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:118841400-118841800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:118841400-118842000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:118841600-118841800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:118841800-118842000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr4:118842200-118843400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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