Variant report

Variant	esv2447981
Chromosome Location	chr4:187858183-187858183
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	chr4:187648351..187650879-chr4:187855816..187858244,2	MCF-7	breast:

Extended variants
information (count: 1 )
Associated
traits (count: 78 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5865020	chr4:187858183-187858184	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Oral cancer	21386901	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187837200-187863800	Weak transcription	Right Atrium	heart
2	chr4:187853200-187858400	Enhancers	Fetal Lung	lung
3	chr4:187854200-187858400	Enhancers	NHDF-Ad	bronchial
4	chr4:187855000-187864000	Weak transcription	HSMMtube	muscle
5	chr4:187855200-187863600	Weak transcription	Fetal Heart	heart
6	chr4:187855600-187858200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:187855600-187858600	Weak transcription	Lung	lung
8	chr4:187855800-187858800	Enhancers	HMEC	breast
9	chr4:187856000-187858200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:187856400-187860000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:187857200-187858200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:187857200-187864000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:187857400-187858600	Enhancers	NHLF	lung
14	chr4:187857400-187863800	Weak transcription	Pancreas	Pancrea
15	chr4:187857400-187863800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:187857400-187864200	Weak transcription	Colonic Mucosa	Colon
17	chr4:187857600-187858200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:187857600-187858200	Active TSS	Fetal Intestine Large	intestine
19	chr4:187857600-187858200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr4:187857600-187858600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr4:187857600-187858600	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr4:187857600-187858600	Enhancers	NHEK	skin
23	chr4:187857600-187858800	Enhancers	NH-A	brain
24	chr4:187857800-187858200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:187857800-187858200	Active TSS	Aorta	Aorta
26	chr4:187857800-187858200	Flanking Active TSS	Colon Smooth Muscle	Colon
27	chr4:187857800-187858200	Flanking Active TSS	Fetal Kidney	kidney
28	chr4:187857800-187858200	Active TSS	Stomach Mucosa	stomach
29	chr4:187857800-187858200	Flanking Active TSS	HUVEC	blood vessel
30	chr4:187857800-187858200	Flanking Active TSS	Osteobl	bone
31	chr4:187857800-187858400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:187857800-187858400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:187857800-187858400	Active TSS	Duodenum Mucosa	Duodenum
34	chr4:187857800-187858400	Active TSS	Stomach Smooth Muscle	stomach
35	chr4:187857800-187858400	Flanking Active TSS	HepG2	liver
36	chr4:187857800-187858600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:187857800-187858600	Enhancers	HSMM	muscle
38	chr4:187858000-187858200	Flanking Active TSS	Fetal Intestine Small	intestine
39	chr4:187858000-187858200	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr4:187858000-187858400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:187858000-187858400	Enhancers	Liver	Liver
42	chr4:187858000-187858400	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr4:187858000-187858400	Active TSS	A549	lung
44	chr4:187858000-187858800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:187858000-187858800	Enhancers	Adipose Nuclei	Adipose
46	chr4:187858000-187859400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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