Variant report

Variant	esv3427653
Chromosome Location	chr4:152456014-152456469
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565361201	chr4:152456049-152456050	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548750725	chr4:152456055-152456056	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1372979	chr4:152456110-152456111	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs528340652	chr4:152456162-152456163	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1372978	chr4:152456180-152456181	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs538995823	chr4:152456183-152456184	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181551142	chr4:152456185-152456186	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539124334	chr4:152456209-152456210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146058912	chr4:152456217-152456218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186034535	chr4:152456223-152456224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536482986	chr4:152456224-152456225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555181736	chr4:152456279-152456280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573603120	chr4:152456308-152456309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191271687	chr4:152456335-152456336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369697312	chr4:152456354-152456355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs3919716	chr4:152456387-152456388	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs183015809	chr4:152456395-152456396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79893370	chr4:152456403-152456404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187758544	chr4:152456425-152456426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6832899	chr4:152456445-152456446	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs190846464	chr4:152456446-152456447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intellectual disability	22102821	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152444200-152459200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:152445800-152461400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:152445800-152468200	Weak transcription	Esophagus	oesophagus
4	chr4:152446800-152458800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:152446800-152458800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:152446800-152459000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:152446800-152462200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:152447000-152458800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:152448800-152458200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr4:152449000-152461400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:152449400-152462600	Weak transcription	Pancreas	Pancrea
12	chr4:152451800-152460800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:152452000-152456800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:152452000-152458800	Weak transcription	NHEK	skin
15	chr4:152452000-152459000	Weak transcription	HMEC	breast
16	chr4:152452000-152468200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:152452800-152457200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr4:152453400-152456200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:152453800-152458600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:152453800-152458800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr4:152454000-152458800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:152454000-152468000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:152454200-152456400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr4:152454800-152457200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr4:152456000-152456400	Enhancers	Psoas Muscle	Psoas
26	chr4:152456200-152459000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:152456400-152462000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr4:152456400-152465800	Weak transcription	Psoas Muscle	Psoas

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