Variant report

Variant	esv1842775
Chromosome Location	chr4:106938490-106942261
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	chr4:106934510..106937161-chr4:106937686..106939688,2	K562	blood:
2	chr4:106933880..106935775-chr4:106939732..106941383,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBCK-1	chr4:106940966-106943635	XLOC_004040
2	lnc-TBCK-1	chr4:106939826-106939916	XLOC_004040

Extended variants
information (count: 114 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4611932	chr4:106938490-106938491	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190490757	chr4:106938514-106938515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573034204	chr4:106938528-106938529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368465799	chr4:106938559-106938560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35039406	chr4:106938594-106938595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551378244	chr4:106938596-106938597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181864708	chr4:106938608-106938609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530396856	chr4:106938692-106938693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147217992	chr4:106938707-106938708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561523831	chr4:106938733-106938734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185206263	chr4:106938776-106938777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530417119	chr4:106938800-106938801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35389712	chr4:106938803-106938804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547362049	chr4:106938842-106938843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188739249	chr4:106938855-106938856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532778640	chr4:106938921-106938922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375320104	chr4:106938934-106938935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569357230	chr4:106938961-106938962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537814684	chr4:106938966-106938967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571199994	chr4:106939000-106939001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554554084	chr4:106939019-106939020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574510117	chr4:106939038-106939039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369802046	chr4:106939078-106939079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368282087	chr4:106939087-106939088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371879747	chr4:106939093-106939094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536131848	chr4:106939098-106939099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541578963	chr4:106939140-106939141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563371699	chr4:106939147-106939148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181176263	chr4:106939178-106939179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375306366	chr4:106939192-106939193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572929838	chr4:106939241-106939242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538847618	chr4:106939282-106939283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115901337	chr4:106939313-106939314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144601423	chr4:106939344-106939345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575304962	chr4:106939371-106939372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544178152	chr4:106939389-106939390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112719889	chr4:106939395-106939396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141507342	chr4:106939396-106939397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545777167	chr4:106939416-106939417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564411617	chr4:106939444-106939445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141700021	chr4:106939501-106939502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560862610	chr4:106939519-106939520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546842090	chr4:106939552-106939553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540916231	chr4:106939619-106939620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11737200	chr4:106939640-106939641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs72675680	chr4:106939653-106939654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
47	rs552755082	chr4:106939729-106939730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529049753	chr4:106939849-106939850	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs147884048	chr4:106939960-106939961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531694660	chr4:106939997-106939998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106935000-106948400	Weak transcription	Aorta	Aorta
2	chr4:106938600-106940000	Enhancers	Brain Germinal Matrix	brain
3	chr4:106938800-106939200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:106938800-106939400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:106939000-106939400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:106939000-106939400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:106939200-106939400	Enhancers	Duodenum Mucosa	Duodenum
8	chr4:106939800-106942400	Enhancers	NHDF-Ad	bronchial
9	chr4:106940400-106941600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:106940400-106941600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:106940400-106942000	Enhancers	HSMM	muscle
12	chr4:106940400-106943000	Enhancers	HSMMtube	muscle
13	chr4:106940600-106941600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:106940800-106941600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:106940800-106941800	Enhancers	Osteobl	bone
16	chr4:106941000-106941400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:106941000-106941800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:106941000-106943200	Enhancers	Fetal Heart	heart
19	chr4:106941000-106944000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr4:106941200-106941400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:106941200-106941400	Enhancers	Left Ventricle	heart
22	chr4:106941200-106944400	Enhancers	Primary hematopoietic stem cells	blood
23	chr4:106941400-106943800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:106941800-106942000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:106942000-106942400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:106942000-106942600	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links