Variant report

Variant	esv3451151
Chromosome Location	chr4:187488081-187488423
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	chr4:187487952..187490198-chr4:187492658..187494283,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565861158	chr4:187488086-187488087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190812583	chr4:187488103-187488104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183681637	chr4:187488117-187488118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572315653	chr4:187488123-187488124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188614133	chr4:187488179-187488180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140326160	chr4:187488197-187488198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577701024	chr4:187488225-187488226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543552490	chr4:187488236-187488237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142059018	chr4:187488253-187488254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529494279	chr4:187488272-187488273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115505822	chr4:187488274-187488275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560013499	chr4:187488275-187488276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201633947	chr4:187488302-187488303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546168896	chr4:187488310-187488311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs151179840	chr4:187488356-187488357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551377628	chr4:187488371-187488372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12642043	chr4:187488373-187488374	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs530616408	chr4:187488380-187488381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
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
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187482800-187488400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:187487400-187490800	Weak transcription	Stomach Mucosa	stomach
3	chr4:187487600-187488200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:187488000-187505000	Weak transcription	A549	lung
5	chr4:187488200-187489000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr4:187488400-187489000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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