Variant report

Variant	esv3435207
Chromosome Location	chr4:56923819-56924267
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540536638	chr4:56923897-56923898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558440342	chr4:56923912-56923913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571477813	chr4:56923946-56923947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537272222	chr4:56923948-56923949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372128658	chr4:56923965-56923966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556619210	chr4:56923973-56923974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573451665	chr4:56923974-56923975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs202193055	chr4:56923975-56923976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200448813	chr4:56923976-56923977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552655723	chr4:56923977-56923978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201162751	chr4:56923980-56923981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564902265	chr4:56924015-56924016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372014521	chr4:56924023-56924024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113798339	chr4:56924071-56924072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181638301	chr4:56924089-56924090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13128193	chr4:56924099-56924100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142269447	chr4:56924109-56924110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186837031	chr4:56924122-56924123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530709216	chr4:56924145-56924146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544460602	chr4:56924150-56924151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563768380	chr4:56924158-56924159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558636959	chr4:56924161-56924162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191302912	chr4:56924169-56924170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111666918	chr4:56924176-56924177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181105060	chr4:56924177-56924178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528505513	chr4:56924253-56924254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551764737	chr4:56924266-56924267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
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	22183965	CNVD
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56916400-56936200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:56916600-56929400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:56916600-56931600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:56916600-56934200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:56917200-56934600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:56922000-56926200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:56922000-56927200	Weak transcription	Fetal Brain Male	brain
8	chr4:56922000-56934200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:56922000-56934400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:56922000-56935600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:56922200-56925600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:56922200-56926600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:56922200-56928600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:56922200-56934000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr4:56922200-56935000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:56922400-56924600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:56922400-56924600	Weak transcription	Fetal Lung	lung
18	chr4:56922400-56926200	Weak transcription	Fetal Kidney	kidney
19	chr4:56922600-56924600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:56922600-56924600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:56922600-56924600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr4:56922600-56926800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr4:56922800-56924600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:56922800-56926200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:56922800-56934000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr4:56922800-56934200	Weak transcription	Fetal Stomach	stomach
27	chr4:56922800-56934800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:56923000-56924600	Weak transcription	Fetal Brain Female	brain
29	chr4:56923400-56928000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:56923600-56924400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:56923600-56924600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:56923600-56924600	Weak transcription	Brain Germinal Matrix	brain
33	chr4:56923800-56925400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:56923800-56928400	Weak transcription	HepG2	liver
35	chr4:56923800-56936400	Weak transcription	Fetal Intestine Small	intestine
36	chr4:56923800-56936800	Weak transcription	Fetal Intestine Large	intestine

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