Variant report

Variant	esv3398990
Chromosome Location	chr4:150263452-150265500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72724036	chr4:150263494-150263495	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551905797	chr4:150263521-150263522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552011474	chr4:150263566-150263567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566991968	chr4:150263571-150263572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554239657	chr4:150263576-150263577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572995005	chr4:150263607-150263608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566172278	chr4:150263631-150263632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540009562	chr4:150263634-150263635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540269977	chr4:150263722-150263723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148398908	chr4:150263804-150263805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536641658	chr4:150263852-150263853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556634133	chr4:150263940-150263941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75913639	chr4:150263943-150263944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576438290	chr4:150263990-150263991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373139261	chr4:150263994-150263995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538757821	chr4:150264048-150264049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558686708	chr4:150264080-150264081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182625067	chr4:150264138-150264139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540858475	chr4:150264190-150264191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201658110	chr4:150264229-150264230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs70962758	chr4:150264233-150264234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543394529	chr4:150264235-150264236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113693052	chr4:150264237-150264238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58911424	chr4:150264284-150264285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560847384	chr4:150264350-150264351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375166795	chr4:150264378-150264379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574434744	chr4:150264459-150264460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200242791	chr4:150264466-150264467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113844216	chr4:150264474-150264475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6854418	chr4:150264498-150264499	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs558183839	chr4:150264503-150264504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576782669	chr4:150264542-150264543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532204514	chr4:150264543-150264544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192257369	chr4:150264580-150264581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199501590	chr4:150264594-150264595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112691544	chr4:150264625-150264626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567914352	chr4:150264660-150264661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184320284	chr4:150264792-150264793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142482188	chr4:150264825-150264826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548054766	chr4:150264880-150264881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs151323699	chr4:150264899-150264900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536952578	chr4:150264920-150264921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6535674	chr4:150264949-150264950	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs112401854	chr4:150264986-150264987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377554369	chr4:150265019-150265020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140582308	chr4:150265164-150265165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371063532	chr4:150265192-150265193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543445024	chr4:150265213-150265214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374080512	chr4:150265278-150265279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377529264	chr4:150265326-150265327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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	21364760	CNVD
Epilepsy	22083797	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:150263200-150263800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:150263800-150265400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:150264600-150265200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:150264600-150267000	Enhancers	NHEK	skin
5	chr4:150264600-150267200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:150264800-150266200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:150264800-150266600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:150264800-150267200	Enhancers	NHDF-Ad	bronchial
9	chr4:150265000-150266200	Enhancers	NH-A	brain
10	chr4:150265000-150266800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:150265200-150266000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:150265400-150266200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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