Variant report

Variant	esv3334898
Chromosome Location	chr4:55573175-55573615
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	chr4:55567098..55569303-chr4:55573075..55575854,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34636061	chr4:55573248-55573249	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs377590954	chr4:55573282-55573283	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143388949	chr4:55573290-55573291	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377102206	chr4:55573295-55573296	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147540142	chr4:55573302-55573303	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148594615	chr4:55573316-55573317	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529920663	chr4:55573328-55573329	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372759291	chr4:55573394-55573395	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554090824	chr4:55573424-55573425	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375734891	chr4:55573429-55573430	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142963781	chr4:55573433-55573434	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566488735	chr4:55573478-55573479	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148182985	chr4:55573484-55573485	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551915482	chr4:55573488-55573489	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372599285	chr4:55573494-55573495	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537407892	chr4:55573512-55573513	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72549288	chr4:55573533-55573534	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs568411587	chr4:55573551-55573552	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534162919	chr4:55573586-55573587	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Hodgkin''s lymphoma	17606441	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
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164920	CNVD
Cancer	22183965	CNVD
Melanoma	18980976	CNVD
Rhabdomyosarcoma	20807811	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55545600-55575800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:55555200-55573600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:55555600-55574400	Weak transcription	Fetal Stomach	stomach
4	chr4:55557800-55594000	Weak transcription	Aorta	Aorta
5	chr4:55561000-55606600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:55562000-55577200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:55562800-55597400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:55563200-55573400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:55565000-55573600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:55565000-55574000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:55565000-55576000	Weak transcription	Ovary	ovary
12	chr4:55565600-55575000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:55565600-55592800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr4:55566200-55589600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:55567600-55575400	Weak transcription	Brain Germinal Matrix	brain
16	chr4:55567800-55574200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:55567800-55587200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:55570400-55578600	Weak transcription	Fetal Brain Male	brain
19	chr4:55570800-55573400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:55570800-55573400	Weak transcription	NHDF-Ad	bronchial
21	chr4:55571000-55580000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:55571200-55575200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr4:55571400-55573200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:55571400-55573200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:55571600-55573400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr4:55572000-55573200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr4:55572000-55573400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:55572200-55573200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:55572200-55576000	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:55572600-55574200	Weak transcription	Gastric	stomach
31	chr4:55573200-55573600	Enhancers	HUVEC	blood vessel
32	chr4:55573200-55574200	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:55573200-55575400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr4:55573200-55576200	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr4:55573200-55576600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:55573400-55573600	Enhancers	Brain Substantia Nigra	brain
37	chr4:55573400-55573800	Enhancers	Thymus	Thymus
38	chr4:55573400-55574200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:55573400-55574600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:55573400-55574600	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr4:55573400-55575000	Strong transcription	NHDF-Ad	bronchial
42	chr4:55573400-55576400	Genic enhancers	Primary hematopoietic stem cells	blood
43	chr4:55573400-55576600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:55573600-55573800	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr4:55573600-55575400	Weak transcription	HUVEC	blood vessel
46	chr4:55573600-55575400	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr4:55573600-55576400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:55573600-55577400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:55573600-55577400	Enhancers	Fetal Thymus	thymus
50	chr4:55573600-55583200	Weak transcription	Brain Substantia Nigra	brain

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