Variant report

Variant	nsv436963
Chromosome Location	chr4:118543358-118547398
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	4:118301798-118302725..4:118541860-118551269	H1-hESC	embryonic stem cell:	embryo
2	4:118357351-118360885..4:118541860-118551269	H1-hESC	embryonic stem cell:	embryo
3	4:118428948-118429401..4:118541860-118551269	H1-hESC	embryonic stem cell:	embryo

Extended variants
information (count: 141 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2635299	chr4:118543358-118543359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540104552	chr4:118543399-118543400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532788704	chr4:118543400-118543401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373934653	chr4:118543445-118543446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558292100	chr4:118543446-118543447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17866802	chr4:118543453-118543454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs11562931	chr4:118543495-118543496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs554200182	chr4:118543513-118543514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111316097	chr4:118543580-118543581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543284282	chr4:118543634-118543635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2635229	chr4:118543685-118543686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs17861239	chr4:118543699-118543700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577084491	chr4:118543710-118543711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546042867	chr4:118543752-118543753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560054175	chr4:118543789-118543790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559795161	chr4:118543807-118543808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528448338	chr4:118543832-118543833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369665238	chr4:118543836-118543837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529065841	chr4:118543872-118543873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562203921	chr4:118543906-118543907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531019584	chr4:118543984-118543985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139207319	chr4:118544067-118544068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10030343	chr4:118544113-118544114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs533473442	chr4:118544210-118544211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546851823	chr4:118544268-118544269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs923441	chr4:118544344-118544345	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs531660213	chr4:118544404-118544405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371871538	chr4:118544412-118544413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551872213	chr4:118544429-118544430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534354571	chr4:118544435-118544436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370263933	chr4:118544441-118544442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554124915	chr4:118544519-118544520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567841911	chr4:118544528-118544529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112365067	chr4:118544536-118544537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537119165	chr4:118544541-118544542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556892297	chr4:118544594-118544595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2635228	chr4:118544597-118544598	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs144353696	chr4:118544619-118544620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146620801	chr4:118544624-118544625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573166967	chr4:118544664-118544665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115015525	chr4:118544714-118544715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184319230	chr4:118544755-118544756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530931195	chr4:118544774-118544775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544660752	chr4:118544806-118544807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs17869325	chr4:118544835-118544836	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs572031286	chr4:118544853-118544854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546790281	chr4:118544903-118544904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566856241	chr4:118544923-118544924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529519175	chr4:118544926-118544927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2130236	chr4:118544982-118544983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118543200-118557400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:118544600-118545000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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