Variant report

Variant	esv1204522
Chromosome Location	chr4:129002552-129002553
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:129001965..129003636-chr4:129391600..129393451,2	K562	blood:

Variant related genes	Relation type
ENSG00000251432	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 71 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35763535	chr4:129002553-129002554	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128983800-129027600	Weak transcription	Brain Hippocampus Middle	brain
2	chr4:128983800-129066600	Weak transcription	Esophagus	oesophagus
3	chr4:128983800-129066600	Weak transcription	Small Intestine	intestine
4	chr4:128984200-129003200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:128984200-129003200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:128984200-129003200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:128984200-129018800	Weak transcription	A549	lung
8	chr4:128984200-129024800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:128984200-129029000	Weak transcription	Brain Anterior Caudate	brain
10	chr4:128984200-129035200	Weak transcription	NHLF	lung
11	chr4:128984400-129003200	Weak transcription	Primary B cells from cord blood	blood
12	chr4:128984400-129003200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:128984400-129012600	Weak transcription	Lung	lung
14	chr4:128984400-129013800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:128984400-129013800	Weak transcription	NHEK	skin
16	chr4:128984400-129018000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:128984400-129020000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:128986400-129014000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:128986400-129019400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr4:128987200-129018200	Weak transcription	Psoas Muscle	Psoas
21	chr4:128990400-129007400	Weak transcription	Gastric	stomach
22	chr4:128990800-129013800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr4:128991000-129031000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:128992800-129029000	Weak transcription	Brain Substantia Nigra	brain
25	chr4:128992800-129038400	Weak transcription	Thymus	Thymus
26	chr4:128993000-129003200	Weak transcription	Primary T cells from cord blood	blood
27	chr4:128993800-129012400	Weak transcription	HSMMtube	muscle
28	chr4:128994200-129066400	Weak transcription	Brain Angular Gyrus	brain
29	chr4:128994400-129009600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr4:128994400-129025200	Weak transcription	Aorta	Aorta
31	chr4:128994800-129031000	Weak transcription	HMEC	breast
32	chr4:128995600-129003200	Weak transcription	HSMM	muscle
33	chr4:128995600-129035800	Weak transcription	Hela-S3	cervix
34	chr4:128996000-129003200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:128996200-129002800	Strong transcription	Fetal Intestine Small	intestine
36	chr4:128996200-129003200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr4:128996200-129003600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:128996200-129003800	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr4:128996200-129004000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:128996200-129004000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:128996200-129008400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:128996400-129003200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:128996400-129003800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:128996400-129003800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr4:128996400-129003800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:128996400-129003800	Strong transcription	Fetal Intestine Large	intestine
47	chr4:128996400-129004000	Strong transcription	Adipose Nuclei	Adipose
48	chr4:128996400-129004800	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr4:128996600-129003800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr4:128996800-129002800	Weak transcription	Primary hematopoietic stem cells	blood

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