Variant report

Variant	esv3381780
Chromosome Location	chr4:118986779-118989202
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 152 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:152 , 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	rs185251782	chr4:118986852-118986853	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139020775	chr4:118986927-118986928	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371976252	chr4:118987002-118987003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376142187	chr4:118987008-118987009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534298409	chr4:118987014-118987015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554178176	chr4:118987094-118987095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574612623	chr4:118987122-118987123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543723893	chr4:118987131-118987132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537089723	chr4:118987132-118987133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139246761	chr4:118987148-118987149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576979251	chr4:118987163-118987164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573966046	chr4:118987175-118987176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556935617	chr4:118987198-118987199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547583246	chr4:118987256-118987257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190181017	chr4:118987275-118987276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28434240	chr4:118987291-118987292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28711393	chr4:118987313-118987314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28600918	chr4:118987314-118987315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559885534	chr4:118987321-118987322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28688245	chr4:118987328-118987329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201975252	chr4:118987342-118987343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528621441	chr4:118987343-118987344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113134448	chr4:118987353-118987354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28399774	chr4:118987358-118987359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111789927	chr4:118987363-118987364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28646146	chr4:118987364-118987365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs180671139	chr4:118987391-118987392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28500762	chr4:118987396-118987397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28498433	chr4:118987397-118987398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185348162	chr4:118987408-118987409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71608340	chr4:118987412-118987413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs70941147	chr4:118987414-118987415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372157866	chr4:118987418-118987419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs60788686	chr4:118987433-118987434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77571801	chr4:118987435-118987436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367679311	chr4:118987437-118987438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376768572	chr4:118987443-118987444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370259767	chr4:118987458-118987459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369202061	chr4:118987468-118987469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs36148382	chr4:118987469-118987470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs60314534	chr4:118987483-118987484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372487794	chr4:118987487-118987488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59679245	chr4:118987488-118987489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs36174242	chr4:118987494-118987495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs36157943	chr4:118987501-118987502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373690934	chr4:118987503-118987504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368546067	chr4:118987510-118987511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs36141336	chr4:118987515-118987516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs36131517	chr4:118987522-118987523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372281935	chr4:118987529-118987530	Weak transcription	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118979200-118987000	Strong transcription	Dnd41	blood
2	chr4:118987000-118988600	Weak transcription	Dnd41	blood
3	chr4:118988600-118990400	Strong transcription	Dnd41	blood
4	chr4:118988800-118989000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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