Variant report

Variant	esv3449125
Chromosome Location	chr4:75028812-75029047
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:75022256-75036597	K562	blood:	n/a	n/a
2	POLR2A	chr4:75028924-75029557	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:75010641..75013526-chr4:75028499..75030027,2	K562	blood:
2	chr4:75026936..75029499-chr4:75048728..75050927,2	K562	blood:
3	chr4:75023931..75025706-chr4:75026268..75029648,3	MCF-7	breast:
4	chr4:75023724..75025558-chr4:75028455..75031389,3	MCF-7	breast:
5	chr4:75028000..75030668-chr4:75031442..75033767,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269559	TF binding region
ENSG00000269559	chromatin interactions
ENSG00000163738	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552297199	chr4:75028814-75028815	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs114280878	chr4:75028815-75028816	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs537882687	chr4:75028830-75028831	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs530353	chr4:75028871-75028872	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs568377708	chr4:75028884-75028885	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs535705979	chr4:75028971-75028972	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs192422158	chr4:75028980-75028981	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs550234683	chr4:75028981-75028982	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs572313008	chr4:75029034-75029035	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs545667730	chr4:75029044-75029045	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20932292	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75024400-75032400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:75024600-75030400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:75024600-75034000	Weak transcription	Gastric	stomach
4	chr4:75024800-75029000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:75024800-75032000	Weak transcription	Placenta	Placenta
6	chr4:75024800-75032400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:75024800-75032600	Weak transcription	Lung	lung
8	chr4:75024800-75033800	Weak transcription	Esophagus	oesophagus
9	chr4:75024800-75033800	Weak transcription	Stomach Mucosa	stomach
10	chr4:75024800-75034400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:75024800-75037000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:75024800-75056600	Weak transcription	Pancreas	Pancrea
13	chr4:75024800-75080600	Weak transcription	Left Ventricle	heart
14	chr4:75025000-75029000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr4:75025000-75032400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr4:75025000-75033600	Weak transcription	Fetal Stomach	stomach
17	chr4:75025000-75034000	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:75025000-75046800	Weak transcription	NHDF-Ad	bronchial
19	chr4:75025200-75032400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:75025200-75041800	Weak transcription	Aorta	Aorta
21	chr4:75025200-75042600	Weak transcription	Brain Substantia Nigra	brain
22	chr4:75025400-75029000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr4:75025400-75029000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:75025400-75029400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr4:75025400-75031400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr4:75025400-75032000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:75025400-75032000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr4:75025400-75032800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr4:75025400-75034400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr4:75025400-75035000	Weak transcription	NHLF	lung
31	chr4:75025400-75067600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr4:75025400-75073600	Weak transcription	Right Ventricle	heart
33	chr4:75025600-75029000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:75025600-75031600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:75025600-75054200	Weak transcription	Ovary	ovary
36	chr4:75025600-75067600	Weak transcription	Thymus	Thymus
37	chr4:75025800-75029000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:75025800-75029000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr4:75025800-75029400	Weak transcription	Small Intestine	intestine
40	chr4:75025800-75029600	Weak transcription	Fetal Intestine Large	intestine
41	chr4:75025800-75030800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:75025800-75032000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr4:75025800-75032400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:75025800-75032400	Weak transcription	Spleen	Spleen
45	chr4:75025800-75034400	Weak transcription	Fetal Intestine Small	intestine
46	chr4:75025800-75049200	Weak transcription	Psoas Muscle	Psoas
47	chr4:75026000-75029000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:75026000-75029200	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:75026400-75029000	Strong transcription	Primary B cells from cord blood	blood
50	chr4:75026400-75029200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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