Variant report

Variant	esv3356275
Chromosome Location	chr4:54013236-54015318
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	chr4:54007557..54010483-chr4:54011201..54014968,3	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566067993	chr4:54013328-54013329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535004493	chr4:54013342-54013343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187624225	chr4:54013369-54013370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374528020	chr4:54013390-54013391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192715860	chr4:54013391-54013392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556027164	chr4:54013519-54013520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138368980	chr4:54013554-54013555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540045091	chr4:54013556-54013557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77100765	chr4:54013595-54013596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564788315	chr4:54013639-54013640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565838785	chr4:54013645-54013646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561681174	chr4:54013687-54013688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115069439	chr4:54013689-54013690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148832778	chr4:54013708-54013709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143492539	chr4:54013709-54013710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575977848	chr4:54013769-54013770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117126762	chr4:54013772-54013773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545037825	chr4:54013815-54013816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549942834	chr4:54013835-54013836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184133572	chr4:54013854-54013855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187837740	chr4:54013945-54013946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76945803	chr4:54013946-54013947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565760480	chr4:54013952-54013953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2412405	chr4:54013975-54013976	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs558039970	chr4:54014012-54014013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549492419	chr4:54014080-54014081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77285672	chr4:54014157-54014158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537294176	chr4:54014162-54014163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79665840	chr4:54014227-54014228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557513736	chr4:54014254-54014255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528650290	chr4:54014267-54014268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376591296	chr4:54014272-54014273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541968359	chr4:54014388-54014389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555455321	chr4:54014478-54014479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547238561	chr4:54014540-54014541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541014791	chr4:54014561-54014562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60258908	chr4:54014600-54014601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571814246	chr4:54014680-54014681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148019488	chr4:54014687-54014688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567912023	chr4:54014694-54014695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115659433	chr4:54014726-54014727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543288501	chr4:54014800-54014801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563516277	chr4:54014895-54014896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529028609	chr4:54014928-54014929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549071191	chr4:54014947-54014948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372811769	chr4:54015038-54015039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559380581	chr4:54015059-54015060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113285637	chr4:54015066-54015067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539302315	chr4:54015148-54015149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201738716	chr4:54015163-54015164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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	21525872	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Idiopathic hypereosinophilic syndrome	20824076	CNVD
Gastrointestinal stromal cancer	17527083	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17209131	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53987800-54016800	Weak transcription	NHLF	lung
2	chr4:53993800-54027800	Weak transcription	Fetal Stomach	stomach
3	chr4:53995200-54014800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:53995400-54017800	Weak transcription	Brain Substantia Nigra	brain
5	chr4:53997000-54017600	Weak transcription	Gastric	stomach
6	chr4:53997400-54020000	Weak transcription	HSMM	muscle
7	chr4:53998600-54014400	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:53999000-54017200	Weak transcription	Fetal Lung	lung
9	chr4:53999000-54027800	Weak transcription	NHDF-Ad	bronchial
10	chr4:54001200-54017600	Weak transcription	Spleen	Spleen
11	chr4:54003400-54019000	Weak transcription	GM12878-XiMat	blood
12	chr4:54004000-54017600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:54004200-54020800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:54004200-54052200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:54005600-54023600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr4:54007000-54017600	Weak transcription	Right Ventricle	heart
17	chr4:54007200-54030600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr4:54008200-54017200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr4:54008200-54017600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:54008600-54019000	Weak transcription	Fetal Intestine Small	intestine
21	chr4:54008800-54017400	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:54009200-54017200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:54009400-54016400	Weak transcription	Placenta	Placenta
24	chr4:54009400-54017400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr4:54009600-54017200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:54009600-54017600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr4:54009600-54017600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr4:54009600-54024000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr4:54009800-54017800	Weak transcription	Colonic Mucosa	Colon
30	chr4:54010200-54034600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:54011400-54017600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:54011400-54027800	Weak transcription	Aorta	Aorta
33	chr4:54011600-54013400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr4:54011600-54013400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr4:54011600-54013400	Weak transcription	Fetal Intestine Large	intestine
36	chr4:54011600-54013400	Weak transcription	Fetal Muscle Leg	muscle
37	chr4:54011600-54013800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr4:54011600-54016200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:54011600-54017200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr4:54011600-54017200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:54011600-54017200	Weak transcription	Dnd41	blood
42	chr4:54011600-54017400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr4:54011600-54017400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr4:54011600-54017600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr4:54011600-54017600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr4:54011600-54019000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:54011600-54019000	Weak transcription	Lung	lung
48	chr4:54011600-54021000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:54011600-54021000	Weak transcription	Primary B cells from cord blood	blood
50	chr4:54011600-54021400	Weak transcription	Primary hematopoietic stem cells	blood

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