Variant report

Variant	esv3379351
Chromosome Location	chr4:54646995-54650493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 150 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555384523	chr4:54647009-54647010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374129538	chr4:54647085-54647086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186395180	chr4:54647108-54647109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148805145	chr4:54647155-54647156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560442106	chr4:54647158-54647159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532845225	chr4:54647176-54647177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142449363	chr4:54647207-54647208	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs535900787	chr4:54647240-54647241	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs369486987	chr4:54647269-54647270	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs569288772	chr4:54647277-54647278	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs554289374	chr4:54647278-54647279	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs538276925	chr4:54647280-54647281	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs6812118	chr4:54647292-54647293	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs561117585	chr4:54647367-54647368	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs61591795	chr4:54647368-54647369	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs79422742	chr4:54647408-54647409	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs553139218	chr4:54647419-54647420	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs572903069	chr4:54647427-54647428	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs77448647	chr4:54647445-54647446	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs4864821	chr4:54647447-54647448	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs558300770	chr4:54647456-54647457	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs543854202	chr4:54647539-54647540	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs150829010	chr4:54647547-54647548	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs574485527	chr4:54647563-54647564	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs189481327	chr4:54647572-54647573	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs560761072	chr4:54647579-54647580	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs532562461	chr4:54647607-54647608	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs374911311	chr4:54647620-54647621	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs139240330	chr4:54647622-54647623	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs57977861	chr4:54647674-54647675	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1498830	chr4:54647761-54647762	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs34231684	chr4:54647762-54647763	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs548640300	chr4:54647767-54647768	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs568320089	chr4:54647853-54647854	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs182119331	chr4:54647897-54647898	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs186699160	chr4:54647925-54647926	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs370669898	chr4:54648027-54648028	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs145456165	chr4:54648032-54648033	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs191063071	chr4:54648055-54648056	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs562284358	chr4:54648067-54648068	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs181724450	chr4:54648085-54648086	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs568852505	chr4:54648123-54648124	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs185108767	chr4:54648126-54648127	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs554552741	chr4:54648136-54648137	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs574324683	chr4:54648143-54648144	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs114857973	chr4:54648151-54648152	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs537560641	chr4:54648181-54648182	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs576849841	chr4:54648193-54648194	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs189587427	chr4:54648212-54648213	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78457031	chr4:54648224-54648225	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Cancer	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
Glioblastoma multiforme	21525872	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164919	CNVD
Gastrointestinal stromal cancer	17527083	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17209131	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164920	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54643800-54647400	Weak transcription	Liver	Liver
2	chr4:54644000-54648000	Weak transcription	NH-A	brain
3	chr4:54644200-54647000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:54644200-54648000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:54644600-54647400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:54644800-54647000	Weak transcription	NHLF	lung
7	chr4:54644800-54652800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:54645200-54647000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:54645200-54648000	Weak transcription	Fetal Stomach	stomach
10	chr4:54646400-54647200	Enhancers	A549	lung
11	chr4:54646400-54650000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:54646600-54649200	Enhancers	Osteobl	bone
13	chr4:54646600-54650200	Enhancers	NHDF-Ad	bronchial
14	chr4:54646800-54647000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr4:54646800-54649200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:54646800-54649600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr4:54647000-54648000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:54647000-54648000	Enhancers	NHLF	lung
19	chr4:54647000-54648400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr4:54647000-54648800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr4:54647000-54649400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:54647200-54647800	Flanking Active TSS	A549	lung
23	chr4:54647200-54649200	Enhancers	HepG2	liver
24	chr4:54647400-54648000	Enhancers	Liver	Liver
25	chr4:54647400-54649200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:54647600-54648400	Enhancers	HUVEC	blood vessel
27	chr4:54647600-54648800	Enhancers	Fetal Lung	lung
28	chr4:54647800-54648200	Active TSS	A549	lung
29	chr4:54648000-54648200	Flanking Active TSS	NHLF	lung
30	chr4:54648000-54648400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:54648000-54648400	Flanking Active TSS	Liver	Liver
32	chr4:54648000-54648400	Enhancers	Stomach Smooth Muscle	stomach
33	chr4:54648000-54648400	Enhancers	Hela-S3	cervix
34	chr4:54648000-54648600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:54648000-54648600	Enhancers	Primary hematopoietic stem cells	blood
36	chr4:54648000-54648800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:54648000-54648800	Enhancers	NH-A	brain
38	chr4:54648000-54649200	Enhancers	Fetal Stomach	stomach
39	chr4:54648200-54648400	Enhancers	NHLF	lung
40	chr4:54648200-54648600	Flanking Active TSS	A549	lung
41	chr4:54648400-54648600	Enhancers	Liver	Liver
42	chr4:54648400-54648600	Flanking Active TSS	NHLF	lung
43	chr4:54648400-54648800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:54648400-54649000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:54648400-54649000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr4:54648400-54652400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:54648400-54652800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr4:54648600-54649600	Enhancers	A549	lung
49	chr4:54648600-54649600	Enhancers	NHLF	lung
50	chr4:54648600-54655600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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