Variant report

Variant	esv2262586
Chromosome Location	chr4:103542696-103542697
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:103534263..103536665-chr4:103540346..103543565,3	K562	blood:
2	chr4:103541846..103542722-chr4:104020662..104021416,3	MCF-7	breast:
3	chr4:103421697..103423490-chr4:103540373..103542890,2	MCF-7	breast:
4	chr4:103542281..103545235-chr4:103546204..103549504,3	K562	blood:

Variant related genes	Relation type
ENSG00000109320	chromatin interactions
ENSG00000260651	chromatin interactions
ENSG00000164039	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373697562	chr4:103542696-103542697	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs202017206	chr4:103542697-103542698	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103521400-103554400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:103534000-103546200	Weak transcription	Small Intestine	intestine
3	chr4:103536200-103552800	Weak transcription	Ovary	ovary
4	chr4:103536200-103595400	Weak transcription	Colonic Mucosa	Colon
5	chr4:103536400-103553400	Weak transcription	Fetal Brain Female	brain
6	chr4:103536600-103550800	Weak transcription	Thymus	Thymus
7	chr4:103536600-103562600	Weak transcription	Brain Germinal Matrix	brain
8	chr4:103536600-103595800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:103537800-103544800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:103537800-103546200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:103538000-103544800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:103538000-103545600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr4:103538000-103546600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr4:103538000-103552800	Weak transcription	Spleen	Spleen
15	chr4:103538200-103546200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr4:103538200-103549400	Weak transcription	Fetal Lung	lung
17	chr4:103538200-103550800	Weak transcription	Lung	lung
18	chr4:103538200-103552400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr4:103538200-103555600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:103538200-103555600	Weak transcription	Gastric	stomach
21	chr4:103538200-103555800	Weak transcription	Esophagus	oesophagus
22	chr4:103538600-103546600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr4:103538600-103552800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:103538800-103545000	Weak transcription	Fetal Stomach	stomach
25	chr4:103538800-103546000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:103538800-103546200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr4:103538800-103546200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr4:103538800-103546200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:103538800-103546200	Weak transcription	Dnd41	blood
30	chr4:103538800-103546400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr4:103538800-103546400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:103538800-103546400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:103538800-103546600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr4:103538800-103552800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr4:103538800-103552800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr4:103538800-103552800	Weak transcription	Adipose Nuclei	Adipose
37	chr4:103538800-103555600	Weak transcription	Right Ventricle	heart
38	chr4:103538800-103555800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr4:103539000-103546200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr4:103539000-103546200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:103539000-103546200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr4:103539000-103546600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:103540000-103543400	Weak transcription	Pancreas	Pancrea
44	chr4:103540000-103544800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr4:103540000-103546400	Weak transcription	Primary B cells from cord blood	blood
46	chr4:103540200-103546600	Weak transcription	GM12878-XiMat	blood
47	chr4:103540800-103543000	Enhancers	HSMM	muscle
48	chr4:103541000-103542800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:103541000-103542800	Enhancers	NHLF	lung
50	chr4:103541000-103543000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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