Variant report

Variant	esv3405660
Chromosome Location	chr4:106918856-106919225
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 77 )

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	rs138626712	chr4:106918860-106918861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72168818	chr4:106918861-106918862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11267330	chr4:106918880-106918881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534171601	chr4:106918883-106918884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201562829	chr4:106918915-106918916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143689691	chr4:106918973-106918974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577294692	chr4:106919016-106919017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539793694	chr4:106919019-106919020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556154699	chr4:106919027-106919028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181537776	chr4:106919038-106919039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375311297	chr4:106919072-106919073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560894575	chr4:106919100-106919101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186618984	chr4:106919107-106919108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540087830	chr4:106919137-106919138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558628098	chr4:106919159-106919160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77335794	chr4:106919161-106919162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59742479	chr4:106919175-106919176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565977084	chr4:106919176-106919177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72958868	chr4:106919201-106919202	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

Disease	PMID	Source
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	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
Oral squamous cell carcinoma	17134496	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
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106907800-106925000	Weak transcription	Pancreas	Pancrea
2	chr4:106912400-106920800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:106913000-106919200	Weak transcription	Aorta	Aorta
4	chr4:106913000-106919600	Weak transcription	Right Atrium	heart
5	chr4:106916200-106919400	Weak transcription	Fetal Kidney	kidney
6	chr4:106916200-106922200	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:106917000-106919200	Weak transcription	Psoas Muscle	Psoas
8	chr4:106917800-106919000	Enhancers	Fetal Heart	heart
9	chr4:106917800-106920400	Enhancers	HepG2	liver
10	chr4:106918000-106919800	Enhancers	Fetal Intestine Small	intestine
11	chr4:106918400-106920000	Enhancers	K562	blood
12	chr4:106918400-106920600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:106918400-106921000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:106918600-106919600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr4:106918800-106919200	Weak transcription	Fetal Intestine Large	intestine
16	chr4:106918800-106919400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:106919000-106919600	Weak transcription	Fetal Heart	heart
18	chr4:106919200-106919400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr4:106919200-106919600	Enhancers	Psoas Muscle	Psoas
20	chr4:106919200-106919800	Enhancers	H9 Cell Line	embryonic stem cell
21	chr4:106919200-106919800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:106919200-106919800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr4:106919200-106920200	Enhancers	Fetal Intestine Large	intestine
24	chr4:106919200-106921000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr4:106919200-106921000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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