Variant report

Variant	esv18605
Chromosome Location	chr4:87148074-87152319
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6828947	chr4:87148096-87148097	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535494084	chr4:87148100-87148101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368481167	chr4:87148217-87148218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557316936	chr4:87148243-87148244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142202666	chr4:87148279-87148280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543656782	chr4:87148346-87148347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115200963	chr4:87148359-87148360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577079205	chr4:87148415-87148416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375796856	chr4:87148432-87148433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541149455	chr4:87148437-87148438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368449240	chr4:87148449-87148450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559524068	chr4:87148531-87148532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529803438	chr4:87148532-87148533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537528844	chr4:87148546-87148547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145983340	chr4:87148573-87148574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7699144	chr4:87148596-87148597	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs557108399	chr4:87148638-87148639	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371797494	chr4:87148639-87148640	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146207062	chr4:87148654-87148655	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558266004	chr4:87148684-87148685	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7699333	chr4:87148704-87148705	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs377560844	chr4:87148839-87148840	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570730470	chr4:87148911-87148912	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191950387	chr4:87148919-87148920	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546778107	chr4:87148932-87148933	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568258086	chr4:87148935-87148936	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535944311	chr4:87148962-87148963	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79805178	chr4:87148963-87148964	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569192308	chr4:87149081-87149082	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572308396	chr4:87149096-87149097	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558788352	chr4:87149166-87149167	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577189077	chr4:87149178-87149179	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541268043	chr4:87149184-87149185	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553200096	chr4:87149195-87149196	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150366335	chr4:87149235-87149236	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75415633	chr4:87149239-87149240	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563151414	chr4:87149288-87149289	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376654135	chr4:87149299-87149300	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138748084	chr4:87149332-87149333	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545457548	chr4:87149373-87149374	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376114375	chr4:87149377-87149378	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564477236	chr4:87149392-87149393	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183776386	chr4:87149413-87149414	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187317767	chr4:87149417-87149418	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74913616	chr4:87149431-87149432	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529379606	chr4:87149498-87149499	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191949714	chr4:87149510-87149511	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569181187	chr4:87149531-87149532	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72662093	chr4:87149539-87149540	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs17011533	chr4:87149553-87149554	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
lymphocytic leukemia	21291569	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
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	20459617	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87140400-87148600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr4:87142600-87157800	Weak transcription	Fetal Stomach	stomach
3	chr4:87143000-87154000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:87144000-87154800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:87145200-87149000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:87145200-87154600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:87147800-87149800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:87148000-87154000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:87148600-87149800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr4:87149000-87149200	Enhancers	Ovary	ovary
11	chr4:87149000-87149600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:87149000-87149800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr4:87149200-87149400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr4:87149200-87149600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr4:87149200-87186200	Weak transcription	Ovary	ovary
16	chr4:87149400-87154800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:87149800-87151800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:87151000-87154000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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