Variant report

Variant	esv3409133
Chromosome Location	chr4:150811090-150811686
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13139249	chr4:150811108-150811109	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536467184	chr4:150811137-150811138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540222829	chr4:150811178-150811179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76644181	chr4:150811200-150811201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539382535	chr4:150811235-150811236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145690229	chr4:150811236-150811237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551634222	chr4:150811247-150811248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569799411	chr4:150811252-150811253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139274108	chr4:150811316-150811317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539357465	chr4:150811322-150811323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558983211	chr4:150811332-150811333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572407653	chr4:150811340-150811341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561025836	chr4:150811366-150811367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541025920	chr4:150811367-150811368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72965326	chr4:150811379-150811380	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs143194197	chr4:150811389-150811390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147494390	chr4:150811433-150811434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369888929	chr4:150811438-150811439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563511608	chr4:150811496-150811497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28380189	chr4:150811499-150811500	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs552493643	chr4:150811507-150811508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559340632	chr4:150811522-150811523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528100813	chr4:150811560-150811561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12503905	chr4:150811598-150811599	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs567694691	chr4:150811600-150811601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536782453	chr4:150811654-150811655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139305676	chr4:150811686-150811687	Enhancers 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
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
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:150806200-150820400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:150806600-150818000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:150808400-150812200	Weak transcription	HSMM	muscle
4	chr4:150810000-150813200	Enhancers	HSMMtube	muscle
5	chr4:150810400-150812200	Enhancers	Fetal Intestine Large	intestine
6	chr4:150811000-150811200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:150811000-150811200	Enhancers	Fetal Intestine Small	intestine
8	chr4:150811000-150812000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:150811000-150813200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:150811200-150811800	Weak transcription	Fetal Intestine Small	intestine
11	chr4:150811600-150811800	Enhancers	Osteobl	bone

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