Variant report

Variant	esv3331791
Chromosome Location	chr4:54329721-54330939
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552262151	chr4:54329746-54329747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140649246	chr4:54329763-54329764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71662229	chr4:54329805-54329806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs33917709	chr4:54329806-54329807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386400058	chr4:54329808-54329809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56852804	chr4:54329810-54329811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569322338	chr4:54329869-54329870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538417962	chr4:54329921-54329922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548832089	chr4:54329945-54329946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558147598	chr4:54329953-54329954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377236429	chr4:54329965-54329966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568760152	chr4:54330036-54330037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534544304	chr4:54330086-54330087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148465178	chr4:54330218-54330219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553834287	chr4:54330245-54330246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191818874	chr4:54330254-54330255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79706781	chr4:54330255-54330256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556640130	chr4:54330292-54330293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576158104	chr4:54330367-54330368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139628331	chr4:54330404-54330405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560791287	chr4:54330419-54330420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555479676	chr4:54330444-54330445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376338061	chr4:54330447-54330448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112154837	chr4:54330492-54330493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573891681	chr4:54330544-54330545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540143575	chr4:54330558-54330559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559856788	chr4:54330598-54330599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138967279	chr4:54330629-54330630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6148435	chr4:54330655-54330656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35602377	chr4:54330656-54330657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs59227137	chr4:54330659-54330660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145399112	chr4:54330660-54330661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202074624	chr4:54330661-54330662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529337048	chr4:54330672-54330673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147565558	chr4:54330689-54330690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200784104	chr4:54330690-54330691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532152865	chr4:54330707-54330708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551911724	chr4:54330780-54330781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562586449	chr4:54330806-54330807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115072812	chr4:54330839-54330840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180902343	chr4:54330849-54330850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2412488	chr4:54330867-54330868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
43	rs578206090	chr4:54330885-54330886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs5858214	chr4:54330933-54330934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3067118	chr4:54330934-54330935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527948381	chr4:54330937-54330938	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	21525872	CNVD
Glioblastoma multiforme	19115005	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54270000-54330800	Weak transcription	Brain Substantia Nigra	brain
2	chr4:54292200-54331200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:54295200-54331600	Weak transcription	Hela-S3	cervix
4	chr4:54295600-54339400	Weak transcription	Fetal Brain Male	brain
5	chr4:54316800-54332600	Weak transcription	Esophagus	oesophagus
6	chr4:54317200-54331400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:54317400-54332600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:54318200-54329800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:54318200-54330200	Strong transcription	Placenta	Placenta
10	chr4:54318400-54329800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:54318400-54329800	Strong transcription	Primary B cells from cord blood	blood
12	chr4:54318600-54330000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:54318600-54330000	Strong transcription	Fetal Thymus	thymus
14	chr4:54318600-54330400	Strong transcription	Primary hematopoietic stem cells	blood
15	chr4:54318800-54329800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:54318800-54330200	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:54319000-54330200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:54320000-54332600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:54320000-54332600	Weak transcription	Aorta	Aorta
20	chr4:54320000-54332800	Weak transcription	Fetal Stomach	stomach
21	chr4:54320000-54342000	Weak transcription	Pancreas	Pancrea
22	chr4:54320000-54353200	Weak transcription	Gastric	stomach
23	chr4:54321000-54332600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:54321200-54329800	Weak transcription	Right Ventricle	heart
25	chr4:54321200-54331800	Weak transcription	Ovary	ovary
26	chr4:54321400-54341800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:54321800-54330800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr4:54321800-54339800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr4:54322000-54331200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr4:54322200-54330600	Weak transcription	Thymus	Thymus
31	chr4:54322200-54331400	Weak transcription	Brain Anterior Caudate	brain
32	chr4:54322200-54331600	Weak transcription	HSMMtube	muscle
33	chr4:54322400-54329800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr4:54322800-54331200	Weak transcription	Psoas Muscle	Psoas
35	chr4:54324600-54330400	Strong transcription	Liver	Liver
36	chr4:54325000-54329800	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr4:54325800-54330000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr4:54326200-54329800	Weak transcription	Fetal Heart	heart
39	chr4:54326200-54330600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr4:54326400-54329800	Strong transcription	NHDF-Ad	bronchial
41	chr4:54326400-54330400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:54326400-54330400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr4:54326400-54331200	Weak transcription	GM12878-XiMat	blood
44	chr4:54326400-54332200	Weak transcription	Fetal Intestine Small	intestine
45	chr4:54326400-54332600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr4:54326600-54329800	Strong transcription	Fetal Intestine Large	intestine
47	chr4:54327400-54330000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr4:54327600-54347800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr4:54327800-54329800	Strong transcription	Left Ventricle	heart
50	chr4:54327800-54330400	Weak transcription	K562	blood

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