Variant report

Variant	esv2655197
Chromosome Location	chr4:147951619-147953108
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184126478	chr4:147951704-147951705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142841460	chr4:147951722-147951723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548502416	chr4:147951726-147951727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1370302	chr4:147951747-147951748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs147403085	chr4:147951750-147951751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550718803	chr4:147951764-147951765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377686593	chr4:147951779-147951780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74597910	chr4:147951803-147951804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17022338	chr4:147951849-147951850	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546322740	chr4:147951873-147951874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187478850	chr4:147951909-147951910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139113429	chr4:147951915-147951916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528344704	chr4:147951975-147951976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149898352	chr4:147951980-147951981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568915168	chr4:147952000-147952001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546494317	chr4:147952023-147952024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575851424	chr4:147952088-147952089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192724746	chr4:147952097-147952098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144903012	chr4:147952166-147952167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184552238	chr4:147952193-147952194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116089188	chr4:147952205-147952206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17576594	chr4:147952241-147952242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs560618851	chr4:147952245-147952246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574186704	chr4:147952256-147952257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543003025	chr4:147952267-147952268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187176072	chr4:147952270-147952271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56801995	chr4:147952271-147952272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562886396	chr4:147952277-147952278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192068213	chr4:147952311-147952312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376905144	chr4:147952358-147952359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184465691	chr4:147952361-147952362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72733768	chr4:147952434-147952435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs17022341	chr4:147952453-147952454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs114531370	chr4:147952454-147952455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57432197	chr4:147952500-147952501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535182249	chr4:147952514-147952515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577735819	chr4:147952557-147952558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189247120	chr4:147952563-147952564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199871960	chr4:147952589-147952590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552922667	chr4:147952591-147952592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57968961	chr4:147952592-147952593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397973340	chr4:147952600-147952601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538506646	chr4:147952609-147952610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558210083	chr4:147952618-147952619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs578122697	chr4:147952629-147952630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534345579	chr4:147952664-147952665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185754248	chr4:147952671-147952672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532333729	chr4:147952706-147952707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374563136	chr4:147952723-147952724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75205750	chr4:147952762-147952763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147946800-147953000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:147951400-147953800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:147953000-147953600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:147953000-147953600	Enhancers	HUES48 Cell Line	embryonic stem cell

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