Variant report

Variant	nsv964924
Chromosome Location	chr5:112353388-112356719
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112346718..112348969-chr5:112352127..112354346,2	MCF-7	breast:
2	chr5:112356556..112358824-chr5:112361701..112363317,2	K562	blood:
3	chr5:112328300..112329801-chr5:112353472..112355961,2	MCF-7	breast:
4	chr5:112314675..112316382-chr5:112352070..112354061,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	DCP2	hsa-miR-148b-3p	chr5:112355072-112355078

Extended variants
information (count: 135 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537045088	chr5:112353395-112353396	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143613756	chr5:112353449-112353450	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546876826	chr5:112353461-112353462	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568379534	chr5:112353465-112353466	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566681716	chr5:112353495-112353496	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77885627	chr5:112353511-112353512	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557096661	chr5:112353512-112353513	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575807236	chr5:112353521-112353522	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568991290	chr5:112353527-112353528	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs151017282	chr5:112353537-112353538	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558831368	chr5:112353555-112353556	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576777966	chr5:112353573-112353574	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115132888	chr5:112353634-112353635	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141099637	chr5:112353694-112353695	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375589890	chr5:112353801-112353802	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542194710	chr5:112353837-112353838	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189450206	chr5:112353838-112353839	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181726910	chr5:112353882-112353883	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145660907	chr5:112353907-112353908	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138212181	chr5:112353975-112353976	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368552610	chr5:112353983-112353984	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142856449	chr5:112354069-112354070	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528057313	chr5:112354086-112354087	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114458512	chr5:112354098-112354099	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534453042	chr5:112354134-112354135	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150209273	chr5:112354166-112354167	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186120379	chr5:112354211-112354212	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs373589253	chr5:112354227-112354228	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs549217739	chr5:112354231-112354232	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs569029615	chr5:112354268-112354269	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs574586327	chr5:112354270-112354271	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs138902567	chr5:112354339-112354340	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs541584406	chr5:112354348-112354349	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs190447016	chr5:112354366-112354367	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs570625369	chr5:112354382-112354383	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs534669040	chr5:112354390-112354391	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs149396862	chr5:112354412-112354413	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79003655	chr5:112354417-112354418	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536144862	chr5:112354552-112354553	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs55901036	chr5:112354553-112354554	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs80090767	chr5:112354554-112354555	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564141995	chr5:112354567-112354568	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182742475	chr5:112354586-112354587	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186355252	chr5:112354625-112354626	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190925879	chr5:112354667-112354668	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569651690	chr5:112354677-112354678	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561658834	chr5:112354705-112354706	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116871459	chr5:112354715-112354716	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144776010	chr5:112354791-112354792	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182756201	chr5:112354823-112354824	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Sezary syndrome	18413736	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:216 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112314200-112356800	Weak transcription	Stomach Mucosa	stomach
2	chr5:112314200-112362600	Weak transcription	Colonic Mucosa	Colon
3	chr5:112315600-112362600	Weak transcription	Brain Angular Gyrus	brain
4	chr5:112317800-112366200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:112318400-112365600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:112319800-112363800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr5:112320000-112364200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:112320600-112362600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:112321200-112364800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:112321400-112363800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr5:112321600-112353800	Weak transcription	Fetal Heart	heart
12	chr5:112322600-112362400	Weak transcription	Psoas Muscle	Psoas
13	chr5:112322800-112362400	Weak transcription	Esophagus	oesophagus
14	chr5:112324800-112369800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:112327800-112364600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:112329400-112356800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr5:112330200-112362800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:112332400-112355800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:112332400-112372600	Weak transcription	Fetal Brain Male	brain
20	chr5:112333000-112359800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:112333200-112362400	Weak transcription	Right Ventricle	heart
22	chr5:112334000-112365200	Strong transcription	Placenta	Placenta
23	chr5:112338600-112360800	Weak transcription	Aorta	Aorta
24	chr5:112339200-112362400	Weak transcription	Pancreas	Pancrea
25	chr5:112339400-112356600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:112339400-112362000	Weak transcription	Gastric	stomach
27	chr5:112340400-112362400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:112340400-112362600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr5:112340400-112362600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr5:112341600-112357600	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr5:112342200-112362600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr5:112342800-112354800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:112343200-112357000	Strong transcription	Primary B cells from cord blood	blood
34	chr5:112343200-112357000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:112343600-112353400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:112345200-112356200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:112345400-112356000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr5:112349600-112353600	Weak transcription	Fetal Kidney	kidney
39	chr5:112349800-112359600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:112349800-112362400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:112349800-112366600	Weak transcription	Colon Smooth Muscle	Colon
42	chr5:112350000-112360600	Weak transcription	Fetal Intestine Small	intestine
43	chr5:112350200-112353600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr5:112350200-112353600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:112350200-112353600	Weak transcription	NHEK	skin
46	chr5:112350200-112354000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr5:112350200-112354200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr5:112350200-112354400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr5:112350200-112356000	Weak transcription	NHLF	lung
50	chr5:112350200-112356000	Weak transcription	Osteobl	bone

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