Variant report

Variant	esv3349403
Chromosome Location	chr4:90044204-90044398
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:90031396..90034227-chr4:90041663..90045608,5	MCF-7	breast:
2	chr4:90036910..90039747-chr4:90043122..90045290,2	MCF-7	breast:
3	chr4:90043352..90045261-chr4:90054968..90057885,2	MCF-7	breast:
4	chr4:90036870..90039187-chr4:90043124..90046686,3	MCF-7	breast:
5	chr4:90043393..90046238-chr4:90047056..90051826,4	K562	blood:

Variant related genes	Relation type
ENSG00000271359	chromatin interactions
ENSG00000138640	chromatin interactions
ENSG00000180346	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 86 )

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	rs199925205	chr4:90044264-90044265	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs77041392	chr4:90044274-90044275	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs202225181	chr4:90044276-90044277	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs4367140	chr4:90044292-90044293	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs116098014	chr4:90044294-90044295	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs560250941	chr4:90044297-90044298	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs200042555	chr4:90044350-90044351	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs72668181	chr4:90044371-90044372	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs35255523	chr4:90044372-90044373	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs59932041	chr4:90044373-90044374	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90033400-90048200	Weak transcription	Ovary	ovary
2	chr4:90033400-90049200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:90033600-90045600	Weak transcription	Esophagus	oesophagus
4	chr4:90033600-90045600	Weak transcription	Pancreas	Pancrea
5	chr4:90033600-90049200	Weak transcription	Gastric	stomach
6	chr4:90033600-90052200	Weak transcription	Aorta	Aorta
7	chr4:90034800-90049200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:90035400-90044600	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:90036600-90044800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:90037000-90046200	Weak transcription	Primary T cells from cord blood	blood
11	chr4:90039200-90044600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:90041600-90045200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:90042200-90047600	Enhancers	Fetal Intestine Large	intestine
14	chr4:90042400-90044800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:90042600-90049600	Enhancers	Fetal Intestine Small	intestine
16	chr4:90043000-90045200	Enhancers	Stomach Mucosa	stomach
17	chr4:90043200-90044400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr4:90043200-90045000	Enhancers	NHEK	skin
19	chr4:90043200-90045800	Enhancers	HMEC	breast
20	chr4:90043400-90050200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:90043600-90044800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:90043600-90044800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:90043600-90045200	Flanking Active TSS	HepG2	liver
24	chr4:90043600-90046000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr4:90043600-90046000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:90043800-90045200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr4:90043800-90045200	Flanking Active TSS	A549	lung
28	chr4:90043800-90045800	Enhancers	Liver	Liver
29	chr4:90043800-90046000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:90044000-90044400	Weak transcription	Placenta	Placenta
31	chr4:90044000-90044600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr4:90044000-90044800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:90044000-90044800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr4:90044000-90045000	Enhancers	Brain Substantia Nigra	brain
35	chr4:90044000-90045000	Enhancers	NH-A	brain
36	chr4:90044000-90045400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr4:90044000-90045800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:90044000-90046000	Enhancers	Duodenum Mucosa	Duodenum
39	chr4:90044200-90044600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr4:90044200-90045400	Weak transcription	Small Intestine	intestine

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