Variant report

Variant	esv3439713
Chromosome Location	chr4:106072090-106072458
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:105812145..105831361-chr4:106062414..106073665,101	MCF-7	breast:
2	chr4:105981331..105982913-chr4:106070883..106073179,2	MCF-7	breast:
3	chr4:106070816..106072685-chr4:106394532..106396510,2	MCF-7	breast:
4	chr4:106069706..106072401-chr4:106190053..106191894,2	K562	blood:
5	chr4:105849643..105852121-chr4:106070083..106072880,2	MCF-7	breast:
6	chr4:105884036..105898505-chr4:106054854..106072562,138	MCF-7	breast:
7	chr4:106070265..106072695-chr4:106079640..106082370,2	K562	blood:

Variant related genes	Relation type
ENSG00000248242	chromatin interactions
ENSG00000251906	chromatin interactions
ENSG00000138777	chromatin interactions
ENSG00000248373	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543952148	chr4:106072109-106072110	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs4699160	chr4:106072156-106072157	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs574727240	chr4:106072202-106072203	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs113130496	chr4:106072203-106072204	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs115411849	chr4:106072264-106072265	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs555890560	chr4:106072285-106072286	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs546181738	chr4:106072299-106072300	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs562916721	chr4:106072321-106072322	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs531831007	chr4:106072332-106072333	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs548733255	chr4:106072336-106072337	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs567444890	chr4:106072356-106072357	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs533069273	chr4:106072374-106072375	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs529920121	chr4:106072382-106072383	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs115918101	chr4:106072456-106072457	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Myelodysplastic syndrome	21518781	CNVD
Myelomonocytic leukemia	20595094	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106069400-106083200	Weak transcription	Pancreas	Pancrea
2	chr4:106069400-106087600	Weak transcription	Lung	lung
3	chr4:106069400-106114200	Weak transcription	Esophagus	oesophagus
4	chr4:106069600-106073200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr4:106069600-106102400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:106069800-106072400	Enhancers	Fetal Heart	heart
7	chr4:106069800-106072400	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr4:106069800-106075600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:106069800-106075800	Weak transcription	Aorta	Aorta
10	chr4:106069800-106080000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:106069800-106080200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:106069800-106101000	Weak transcription	HSMM	muscle
13	chr4:106069800-106101800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr4:106070000-106072200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr4:106070000-106072400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr4:106070000-106072600	Enhancers	Adipose Nuclei	Adipose
17	chr4:106070200-106076000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:106070200-106076400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:106070200-106076800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr4:106070200-106080600	Weak transcription	Fetal Stomach	stomach
21	chr4:106070400-106072400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr4:106070400-106107800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:106070400-106111600	Weak transcription	Placenta	Placenta
24	chr4:106070600-106072200	Weak transcription	Fetal Muscle Leg	muscle
25	chr4:106070600-106072200	Enhancers	K562	blood
26	chr4:106070600-106072400	Enhancers	Fetal Brain Male	brain
27	chr4:106070600-106072400	Enhancers	Stomach Mucosa	stomach
28	chr4:106070600-106080000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:106070800-106073200	Enhancers	Ovary	ovary
30	chr4:106071000-106072200	Enhancers	Brain Anterior Caudate	brain
31	chr4:106071000-106072400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:106071000-106072400	Enhancers	Right Ventricle	heart
33	chr4:106071000-106076400	Weak transcription	Primary T cells from cord blood	blood
34	chr4:106071000-106080200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr4:106071000-106100800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr4:106071200-106072200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:106071200-106072200	Weak transcription	NHLF	lung
38	chr4:106071200-106073000	Enhancers	Psoas Muscle	Psoas
39	chr4:106071200-106074400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:106071200-106075800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:106071200-106075800	Weak transcription	HMEC	breast
42	chr4:106071200-106076200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:106071200-106076200	Weak transcription	NHDF-Ad	bronchial
44	chr4:106071200-106077600	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr4:106071200-106079400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr4:106071200-106083400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:106071400-106073800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:106071600-106077800	Weak transcription	Fetal Kidney	kidney
49	chr4:106071800-106072200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr4:106071800-106072200	Enhancers	Liver	Liver

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