Variant report

Variant	esv2525124
Chromosome Location	chr4:106972848-106974366
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:106973955..106976797-chr4:106984969..106987253,2	K562	blood:
2	chr4:106952681..106954677-chr4:106971571..106974056,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575398400	chr4:106972904-106972905	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs188635145	chr4:106972907-106972908	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs555844079	chr4:106973007-106973008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575590985	chr4:106973036-106973037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541412717	chr4:106973087-106973088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114291195	chr4:106973134-106973135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191425745	chr4:106973149-106973150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539483842	chr4:106973164-106973165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527961764	chr4:106973200-106973201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541393159	chr4:106973250-106973251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564675635	chr4:106973278-106973279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533366068	chr4:106973316-106973317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182696575	chr4:106973367-106973368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570156006	chr4:106973380-106973381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113482591	chr4:106973427-106973428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561477124	chr4:106973454-106973455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565976670	chr4:106973485-106973486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534060835	chr4:106973512-106973513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374799094	chr4:106973514-106973515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553801978	chr4:106973543-106973544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570579914	chr4:106973576-106973577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10023586	chr4:106973602-106973603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs555979066	chr4:106973625-106973626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575726805	chr4:106973649-106973650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35199098	chr4:106973657-106973658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541551927	chr4:106973673-106973674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555360062	chr4:106973755-106973756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573087995	chr4:106973770-106973771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540534905	chr4:106973777-106973778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140434124	chr4:106973817-106973818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571970799	chr4:106973918-106973919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541664759	chr4:106973925-106973926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547164040	chr4:106973927-106973928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145582958	chr4:106973929-106973930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371251798	chr4:106973947-106973948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533713715	chr4:106973966-106973967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544027975	chr4:106974027-106974028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563900783	chr4:106974048-106974049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191550149	chr4:106974138-106974139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529391586	chr4:106974224-106974225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549515227	chr4:106974227-106974228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566035825	chr4:106974240-106974241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528477832	chr4:106974246-106974247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547629770	chr4:106974262-106974263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs199657966	chr4:106974266-106974267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372291138	chr4:106974267-106974268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570646242	chr4:106974330-106974331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138183382	chr4:106974331-106974332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549540444	chr4:106974344-106974345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106959600-106983400	Weak transcription	HepG2	liver
2	chr4:106965800-106977600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr4:106967600-106983600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:106967600-106983800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:106967800-106976400	Weak transcription	Psoas Muscle	Psoas
6	chr4:106967800-106984200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:106967800-106994600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:106968000-106977200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:106968000-106977200	Weak transcription	Primary T cells from cord blood	blood
10	chr4:106968000-106984600	Weak transcription	Primary B cells from cord blood	blood
11	chr4:106969800-106978200	Weak transcription	Ovary	ovary
12	chr4:106970000-106977800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:106970200-106973600	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:106971800-106973000	Enhancers	Fetal Heart	heart
15	chr4:106972200-106978200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:106972400-106973000	Flanking Active TSS	Fetal Lung	lung
17	chr4:106972400-106997000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:106972600-106974200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:106973000-106982800	Weak transcription	Fetal Lung	lung
20	chr4:106974200-106975000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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