Variant report

Variant	nsv293429
Chromosome Location	chr4:149051993-149055794
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187555228	chr4:149052006-149052007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376520507	chr4:149052011-149052012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113417275	chr4:149052060-149052061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550735578	chr4:149052076-149052077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368559654	chr4:149052092-149052093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192491743	chr4:149052099-149052100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149268481	chr4:149052226-149052227	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546444250	chr4:149052235-149052236	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566781547	chr4:149052242-149052243	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535414175	chr4:149052272-149052273	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183767726	chr4:149052321-149052322	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568158766	chr4:149052341-149052342	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537046701	chr4:149052354-149052355	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115622998	chr4:149052361-149052362	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577224768	chr4:149052382-149052383	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546390001	chr4:149052383-149052384	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529344696	chr4:149052384-149052385	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114270034	chr4:149052435-149052436	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573363020	chr4:149052469-149052470	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541531281	chr4:149052479-149052480	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542574495	chr4:149052502-149052503	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371520443	chr4:149052528-149052529	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530524666	chr4:149052532-149052533	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544188449	chr4:149052541-149052542	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564222344	chr4:149052554-149052555	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61764570	chr4:149052582-149052583	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397722838	chr4:149052585-149052586	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200061359	chr4:149052586-149052587	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373582254	chr4:149052624-149052625	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546655532	chr4:149052654-149052655	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377293402	chr4:149052657-149052658	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72961545	chr4:149052697-149052698	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs529046442	chr4:149052702-149052703	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61764571	chr4:149052718-149052719	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548915486	chr4:149052838-149052839	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11099678	chr4:149052850-149052851	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs371697808	chr4:149052872-149052873	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11729617	chr4:149052875-149052876	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs78224246	chr4:149052966-149052967	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201721477	chr4:149052977-149052978	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570400778	chr4:149053025-149053026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570944170	chr4:149053054-149053055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531509735	chr4:149053066-149053067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189402858	chr4:149053068-149053069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368248630	chr4:149053093-149053094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139043318	chr4:149053097-149053098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372276652	chr4:149053134-149053135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376849862	chr4:149053151-149053152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542438143	chr4:149053153-149053154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556106394	chr4:149053175-149053176	Weak transcription Enhancers	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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149004600-149052400	Weak transcription	Esophagus	oesophagus
2	chr4:149018000-149085800	Weak transcription	Stomach Mucosa	stomach
3	chr4:149024000-149068600	Weak transcription	Right Ventricle	heart
4	chr4:149030800-149067000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:149039400-149069400	Weak transcription	Colonic Mucosa	Colon
6	chr4:149040600-149083200	Weak transcription	Gastric	stomach
7	chr4:149041400-149067600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:149041400-149092000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr4:149041600-149061400	Weak transcription	Fetal Stomach	stomach
10	chr4:149041600-149069600	Weak transcription	Brain Anterior Caudate	brain
11	chr4:149041800-149074400	Weak transcription	Lung	lung
12	chr4:149045600-149104800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:149046400-149076600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr4:149046400-149085800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:149046600-149055400	Weak transcription	Brain Substantia Nigra	brain
16	chr4:149046600-149066600	Weak transcription	Ovary	ovary
17	chr4:149046600-149075600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr4:149046600-149087400	Weak transcription	Aorta	Aorta
19	chr4:149047000-149066800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr4:149047000-149077200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr4:149047400-149062600	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:149047400-149066000	Weak transcription	Pancreas	Pancrea
23	chr4:149047400-149067200	Weak transcription	Left Ventricle	heart
24	chr4:149047400-149083800	Weak transcription	Small Intestine	intestine
25	chr4:149047600-149052200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:149048800-149066600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:149049000-149066000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr4:149049400-149083000	Weak transcription	Fetal Intestine Large	intestine
29	chr4:149049600-149052800	Weak transcription	Fetal Heart	heart
30	chr4:149049600-149072800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr4:149050000-149060000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr4:149050000-149065800	Weak transcription	Liver	Liver
33	chr4:149050400-149059200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr4:149050600-149056200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr4:149051400-149052400	Weak transcription	Psoas Muscle	Psoas
36	chr4:149051800-149066800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr4:149052200-149052600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr4:149052200-149053000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr4:149052400-149052600	Enhancers	Psoas Muscle	Psoas
40	chr4:149052600-149054000	Weak transcription	Psoas Muscle	Psoas
41	chr4:149052800-149054000	Enhancers	Fetal Heart	heart
42	chr4:149053000-149066000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:149054000-149055000	Enhancers	Psoas Muscle	Psoas
44	chr4:149054400-149054800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr4:149054400-149054800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr4:149054400-149055000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr4:149054400-149055200	Enhancers	HUVEC	blood vessel
48	chr4:149054600-149055000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr4:149054800-149055000	Active TSS	Adipose Nuclei	Adipose
50	chr4:149055000-149066400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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