Variant report

Variant	nsv822767
Chromosome Location	chr4:147322238-147331055
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	chr4:147329344..147331029-chr4:147426508..147428217,2	K562	blood:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-7849-3p	chr4:147329798-147329819	MIMAT0030424

Extended variants
information (count: 277 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:277 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533194257	chr4:147322259-147322260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546805158	chr4:147322266-147322267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571116521	chr4:147322268-147322269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182128374	chr4:147322271-147322272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535692848	chr4:147322326-147322327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185963376	chr4:147322329-147322330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189223531	chr4:147322344-147322345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10519805	chr4:147322382-147322383	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs545386804	chr4:147322390-147322391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181020100	chr4:147322401-147322402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2630305	chr4:147322435-147322436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs553943500	chr4:147322442-147322443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573999431	chr4:147322578-147322579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543266731	chr4:147322591-147322592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140575637	chr4:147322632-147322633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562757756	chr4:147322638-147322639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150426871	chr4:147322643-147322644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185391927	chr4:147322657-147322658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548453003	chr4:147322658-147322659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138187217	chr4:147322669-147322670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35057969	chr4:147322683-147322684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527780180	chr4:147322727-147322728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546817682	chr4:147322758-147322759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569807404	chr4:147322761-147322762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560345911	chr4:147322812-147322813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190300361	chr4:147322858-147322859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549231189	chr4:147322874-147322875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569034414	chr4:147322902-147322903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537880685	chr4:147322912-147322913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550953470	chr4:147322968-147322969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149589781	chr4:147322980-147322981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371619125	chr4:147322988-147322989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2630306	chr4:147323001-147323002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575834092	chr4:147323013-147323014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71614579	chr4:147323014-147323015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553955747	chr4:147323043-147323044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182863522	chr4:147323054-147323055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536568151	chr4:147323139-147323140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543137465	chr4:147323155-147323156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556846551	chr4:147323166-147323167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146318517	chr4:147323183-147323184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529046694	chr4:147323261-147323262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551923015	chr4:147323274-147323275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547380010	chr4:147323300-147323301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6826676	chr4:147323331-147323332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs375788579	chr4:147323380-147323381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs36044775	chr4:147323398-147323399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77254741	chr4:147323415-147323416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377413967	chr4:147323528-147323529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541502157	chr4:147323538-147323539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Myelofibrosis	22110671	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147283000-147332200	Weak transcription	Primary B cells from cord blood	blood
2	chr4:147300600-147328800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:147304800-147323400	Weak transcription	Psoas Muscle	Psoas
4	chr4:147305000-147336600	Weak transcription	Aorta	Aorta
5	chr4:147311000-147324200	Weak transcription	Primary T cells from cord blood	blood
6	chr4:147319400-147329200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:147319600-147322400	Enhancers	K562	blood
8	chr4:147320400-147322600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:147322400-147322800	Weak transcription	K562	blood
10	chr4:147322600-147323000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:147322600-147323000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:147323400-147323600	Enhancers	Psoas Muscle	Psoas
13	chr4:147325200-147325400	Weak transcription	Pancreas	Pancrea
14	chr4:147327200-147327800	Weak transcription	Pancreas	Pancrea
15	chr4:147327200-147328400	Enhancers	HUVEC	blood vessel
16	chr4:147327400-147329800	Enhancers	Stomach Mucosa	stomach
17	chr4:147327600-147327800	Enhancers	Gastric	stomach
18	chr4:147327800-147328000	Enhancers	Pancreas	Pancrea
19	chr4:147327800-147329000	Weak transcription	Gastric	stomach
20	chr4:147328000-147329000	Weak transcription	Pancreas	Pancrea
21	chr4:147328400-147328800	Flanking Active TSS	HUVEC	blood vessel
22	chr4:147328400-147329000	Enhancers	K562	blood
23	chr4:147328400-147329400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr4:147328600-147329400	Enhancers	Osteobl	bone
25	chr4:147328800-147329200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:147328800-147329200	Enhancers	Duodenum Mucosa	Duodenum
27	chr4:147328800-147329200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr4:147328800-147329200	Enhancers	NH-A	brain
29	chr4:147328800-147329400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:147328800-147329400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:147328800-147330400	Enhancers	HUVEC	blood vessel
32	chr4:147329000-147329200	Flanking Active TSS	K562	blood
33	chr4:147329000-147329400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:147329000-147329400	Enhancers	Pancreas	Pancrea
35	chr4:147329000-147329400	Enhancers	Hela-S3	cervix
36	chr4:147329000-147329400	Enhancers	NHDF-Ad	bronchial
37	chr4:147329000-147329600	Enhancers	Esophagus	oesophagus
38	chr4:147329000-147329600	Enhancers	Gastric	stomach
39	chr4:147329200-147329600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:147329200-147329600	Enhancers	Spleen	Spleen
41	chr4:147329200-147330200	Enhancers	K562	blood
42	chr4:147329400-147333800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr4:147329400-147340000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:147329600-147332800	Weak transcription	Esophagus	oesophagus
45	chr4:147329800-147333000	Weak transcription	Stomach Mucosa	stomach

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