Variant report

Variant	esv3487344
Chromosome Location	chr4:103530272-103530842
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:103530824..103533424-chr4:103533780..103536063,2	K562	blood:
2	chr4:103421402..103423829-chr4:103529999..103532855,2	K562	blood:
3	chr4:103527865..103530331-chr4:103746891..103748904,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109332	chromatin interactions
ENSG00000260651	chromatin interactions
ENSG00000109320	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 74 )

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	rs549752624	chr4:103530274-103530275	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs536158437	chr4:103530291-103530292	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs185610468	chr4:103530308-103530309	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs373311310	chr4:103530316-103530317	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs77351457	chr4:103530325-103530326	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs372174091	chr4:103530327-103530328	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs9790371	chr4:103530328-103530329	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs9790373	chr4:103530334-103530335	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs191556663	chr4:103530344-103530345	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs540076833	chr4:103530500-103530501	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs558353362	chr4:103530545-103530546	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs564678797	chr4:103530578-103530579	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs576898726	chr4:103530583-103530584	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs543831649	chr4:103530629-103530630	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs28557116	chr4:103530642-103530643	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs531188901	chr4:103530702-103530703	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs543347529	chr4:103530725-103530726	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs34646774	chr4:103530769-103530770	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs561616041	chr4:103530827-103530828	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103483400-103541600	Weak transcription	K562	blood
2	chr4:103497600-103533400	Strong transcription	Primary B cells from peripheral blood	blood
3	chr4:103502600-103532800	Weak transcription	Brain Germinal Matrix	brain
4	chr4:103512800-103531800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:103513000-103542000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:103513200-103536200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:103514600-103535800	Strong transcription	Adipose Nuclei	Adipose
8	chr4:103514600-103538200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:103514600-103539000	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr4:103515000-103539000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr4:103515200-103533200	Strong transcription	Primary B cells from cord blood	blood
12	chr4:103515200-103533400	Strong transcription	Primary hematopoietic stem cells	blood
13	chr4:103515200-103533600	Strong transcription	Duodenum Mucosa	Duodenum
14	chr4:103515200-103538800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr4:103515400-103533200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:103515400-103533400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:103515400-103533400	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr4:103515400-103533600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr4:103515400-103538800	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:103515400-103538800	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr4:103515600-103533400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:103515600-103535600	Strong transcription	Fetal Muscle Trunk	muscle
23	chr4:103515800-103535800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:103515800-103538200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:103515800-103538800	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr4:103515800-103538800	Strong transcription	Rectal Smooth Muscle	rectum
27	chr4:103517600-103541600	Weak transcription	Right Atrium	heart
28	chr4:103517800-103536200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:103518400-103533200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:103520200-103530400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:103520200-103535600	Strong transcription	Left Ventricle	heart
32	chr4:103520600-103531800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr4:103520800-103538600	Strong transcription	GM12878-XiMat	blood
34	chr4:103521000-103538800	Strong transcription	Placenta	Placenta
35	chr4:103521200-103537600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr4:103521400-103532600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:103521400-103554400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:103521800-103537400	Strong transcription	HSMM	muscle
39	chr4:103522400-103535600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr4:103523200-103531600	Strong transcription	Fetal Thymus	thymus
41	chr4:103523200-103538800	Strong transcription	Liver	Liver
42	chr4:103523800-103533200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr4:103524600-103532600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
44	chr4:103524600-103533600	Strong transcription	Fetal Lung	lung
45	chr4:103524600-103538800	Strong transcription	Dnd41	blood
46	chr4:103525000-103532200	Weak transcription	Fetal Brain Male	brain
47	chr4:103525400-103530800	Strong transcription	Primary T cells from cord blood	blood
48	chr4:103525400-103537200	Strong transcription	Colon Smooth Muscle	Colon
49	chr4:103525600-103532800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr4:103525600-103536800	Strong transcription	HepG2	liver

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