Variant report

Variant	esv3420448
Chromosome Location	chr4:79030428-79034626
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540115039	chr4:79030432-79030433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554074373	chr4:79030551-79030552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576759049	chr4:79030558-79030559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545424067	chr4:79030559-79030560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562229941	chr4:79030591-79030592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531273656	chr4:79030666-79030667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541547955	chr4:79030960-79030961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562096079	chr4:79031138-79031139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527899515	chr4:79031469-79031470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547765999	chr4:79031472-79031473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571149252	chr4:79031623-79031624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369134185	chr4:79031801-79031802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200361587	chr4:79032083-79032084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62307992	chr4:79032108-79032109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111882323	chr4:79032273-79032274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71449739	chr4:79032348-79032349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373047679	chr4:79032762-79032763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565772847	chr4:79032809-79032810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550163050	chr4:79032821-79032822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570086136	chr4:79032841-79032842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535903153	chr4:79032883-79032884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376549595	chr4:79032908-79032909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11730335	chr4:79032909-79032910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564909222	chr4:79032923-79032924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71609398	chr4:79032924-79032925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28707182	chr4:79032928-79032929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs568152378	chr4:79032938-79032939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534039451	chr4:79032942-79032943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553761108	chr4:79032949-79032950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116227149	chr4:79032950-79032951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545709175	chr4:79032990-79032991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13106100	chr4:79032991-79032992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs375744785	chr4:79032996-79032997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541486061	chr4:79033002-79033003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561864109	chr4:79033035-79033036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527880654	chr4:79033047-79033048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367676826	chr4:79033051-79033052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376589707	chr4:79033055-79033056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528160755	chr4:79033066-79033067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140190433	chr4:79033086-79033087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11731290	chr4:79033089-79033090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs13130161	chr4:79033115-79033116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs550496592	chr4:79033136-79033137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570827915	chr4:79033148-79033149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561076938	chr4:79033154-79033155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190787998	chr4:79033157-79033158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529344599	chr4:79033179-79033180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549206408	chr4:79033184-79033185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143784833	chr4:79033196-79033197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546747760	chr4:79033211-79033212	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	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
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79022200-79039200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:79027000-79033200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:79027000-79033600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:79027000-79039400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:79033200-79033400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:79033600-79033800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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