Variant report

Variant	esv2576302
Chromosome Location	chr4:144390957-144392263
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541082541	chr4:144390974-144390975	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12498527	chr4:144391010-144391011	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs28924080	chr4:144391082-144391083	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184419054	chr4:144391102-144391103	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141103763	chr4:144391113-144391114	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541825630	chr4:144391163-144391164	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372373170	chr4:144391203-144391204	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563307166	chr4:144391217-144391218	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs28924081	chr4:144391219-144391220	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs189306252	chr4:144391316-144391317	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572751414	chr4:144391381-144391382	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144629203	chr4:144391429-144391430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199543435	chr4:144391450-144391451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11734666	chr4:144391458-144391459	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs28924082	chr4:144391459-144391460	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs541957105	chr4:144391483-144391484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112932783	chr4:144391488-144391489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372207724	chr4:144391489-144391490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376847909	chr4:144391513-144391514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560193572	chr4:144391514-144391515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572177412	chr4:144391542-144391543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138517086	chr4:144391572-144391573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565856705	chr4:144391621-144391622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536373123	chr4:144391726-144391727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35037590	chr4:144391763-144391764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184855647	chr4:144391795-144391796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28924083	chr4:144391797-144391798	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs537307748	chr4:144391803-144391804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558589249	chr4:144391842-144391843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141674935	chr4:144391875-144391876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534540069	chr4:144391940-144391941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201584092	chr4:144391966-144391967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28924084	chr4:144392007-144392008	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs547920211	chr4:144392066-144392067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145371277	chr4:144392141-144392142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1397529	chr4:144392162-144392163	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs540141160	chr4:144392170-144392171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376657038	chr4:144392232-144392233	Weak transcription Strong transcription	n/a	n/a	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
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
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
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
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144336400-144392200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:144339400-144394600	Weak transcription	Colonic Mucosa	Colon
3	chr4:144353200-144398600	Weak transcription	Brain Germinal Matrix	brain
4	chr4:144353600-144400000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:144360200-144399000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:144363200-144395400	Weak transcription	Spleen	Spleen
7	chr4:144363200-144398600	Weak transcription	Lung	lung
8	chr4:144365600-144398400	Weak transcription	NHLF	lung
9	chr4:144366200-144394400	Weak transcription	Psoas Muscle	Psoas
10	chr4:144373200-144399000	Weak transcription	Fetal Brain Male	brain
11	chr4:144376000-144391400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:144376000-144392800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr4:144376000-144398400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:144376600-144392000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:144376800-144391200	Weak transcription	NH-A	brain
16	chr4:144376800-144410000	Weak transcription	Pancreas	Pancrea
17	chr4:144377200-144397400	Weak transcription	NHDF-Ad	bronchial
18	chr4:144378600-144393200	Weak transcription	Osteobl	bone
19	chr4:144379400-144399000	Weak transcription	HSMMtube	muscle
20	chr4:144380000-144391800	Weak transcription	NHEK	skin
21	chr4:144380000-144392200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:144380200-144392000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:144380200-144392000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr4:144380400-144392400	Strong transcription	Fetal Intestine Large	intestine
25	chr4:144380600-144391800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:144380600-144391800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:144380600-144393600	Strong transcription	Placenta	Placenta
28	chr4:144381000-144392000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr4:144381400-144392000	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr4:144382200-144392000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:144382800-144391000	Weak transcription	Fetal Kidney	kidney
32	chr4:144382800-144396200	Weak transcription	Small Intestine	intestine
33	chr4:144382800-144400600	Weak transcription	Esophagus	oesophagus
34	chr4:144382800-144410200	Weak transcription	Gastric	stomach
35	chr4:144383000-144405800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:144383600-144393200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr4:144384000-144393400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:144384200-144392600	Weak transcription	Fetal Thymus	thymus
39	chr4:144384200-144400600	Weak transcription	Right Ventricle	heart
40	chr4:144384200-144409800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:144384400-144392600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr4:144384400-144400200	Weak transcription	Ovary	ovary
43	chr4:144384800-144397200	Weak transcription	Left Ventricle	heart
44	chr4:144385600-144391000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:144385800-144391200	Strong transcription	Liver	Liver
46	chr4:144386200-144392000	Strong transcription	Primary B cells from cord blood	blood
47	chr4:144386200-144392000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:144386200-144392200	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr4:144386400-144391800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr4:144386400-144392000	Strong transcription	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links