Variant report

Variant	nsv595656
Chromosome Location	chr4:149098936-149100512
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4835493	chr4:149098936-149098937	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs35041849	chr4:149098985-149098986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565236642	chr4:149099002-149099003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79026125	chr4:149099043-149099044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546264963	chr4:149099113-149099114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564451807	chr4:149099115-149099116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374931688	chr4:149099149-149099150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561356115	chr4:149099179-149099180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10004472	chr4:149099184-149099185	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs373804421	chr4:149099214-149099215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550369073	chr4:149099217-149099218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144753289	chr4:149099227-149099228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72726676	chr4:149099269-149099270	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552203407	chr4:149099345-149099346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190043387	chr4:149099347-149099348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534456695	chr4:149099348-149099349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548248597	chr4:149099375-149099376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562396718	chr4:149099394-149099395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568038061	chr4:149099465-149099466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573166364	chr4:149099531-149099532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556698501	chr4:149099533-149099534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562538615	chr4:149099560-149099561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529958170	chr4:149099600-149099601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576730360	chr4:149099605-149099606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138613678	chr4:149099687-149099688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558723324	chr4:149099709-149099710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533484192	chr4:149099711-149099712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572387953	chr4:149099790-149099791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141622415	chr4:149099890-149099891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561455080	chr4:149099978-149099979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574951237	chr4:149100042-149100043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544036286	chr4:149100046-149100047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs58576220	chr4:149100084-149100085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369246104	chr4:149100091-149100092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563822670	chr4:149100093-149100094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547946726	chr4:149100094-149100095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532901255	chr4:149100097-149100098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200411862	chr4:149100098-149100099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145292224	chr4:149100103-149100104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372820804	chr4:149100106-149100107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138189490	chr4:149100112-149100113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369297291	chr4:149100135-149100136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192679494	chr4:149100199-149100200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17024456	chr4:149100252-149100253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs536702052	chr4:149100269-149100270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28377603	chr4:149100283-149100284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs28487903	chr4:149100301-149100302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs575558538	chr4:149100325-149100326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544039176	chr4:149100356-149100357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539380998	chr4:149100364-149100365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149045600-149104800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:149084000-149106200	Weak transcription	Lung	lung
3	chr4:149087600-149123400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:149088000-149113200	Weak transcription	Adipose Nuclei	Adipose
5	chr4:149088000-149113600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:149088400-149113000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:149088400-149122800	Weak transcription	Brain Angular Gyrus	brain
8	chr4:149092400-149113400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:149093000-149102000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:149093000-149102000	Weak transcription	Left Ventricle	heart
11	chr4:149094400-149113200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr4:149094600-149099800	Weak transcription	Small Intestine	intestine
13	chr4:149094800-149113200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:149094800-149124600	Weak transcription	Aorta	Aorta
15	chr4:149095000-149101200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr4:149095200-149113600	Weak transcription	Pancreas	Pancrea
17	chr4:149095800-149102000	Weak transcription	Psoas Muscle	Psoas
18	chr4:149096000-149102000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:149096000-149102600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr4:149096600-149104800	Weak transcription	Brain Hippocampus Middle	brain
21	chr4:149098000-149099400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:149098200-149099000	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr4:149098400-149099000	Enhancers	Brain Substantia Nigra	brain
24	chr4:149098600-149099200	Enhancers	Brain Anterior Caudate	brain
25	chr4:149099000-149100400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:149099000-149102000	Weak transcription	Brain Substantia Nigra	brain
27	chr4:149099000-149116600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr4:149099200-149123600	Weak transcription	Brain Anterior Caudate	brain
29	chr4:149099400-149102400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:149099800-149100000	Enhancers	Small Intestine	intestine
31	chr4:149100000-149100600	Weak transcription	Small Intestine	intestine
32	chr4:149100400-149102600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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