Variant report

Variant	nsv964923
Chromosome Location	chr5:112349068-112350764
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	chr5:112349384..112350972-chr5:112360644..112363312,2	MCF-7	breast:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	DCP2	hsa-miR-92a-3p	chr5:112349543-112349549
2	DCP2	hsa-miR-148b-3p	chr5:112349344-112349350

Extended variants
information (count: 92 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9326869	chr5:112349070-112349071	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551417149	chr5:112349081-112349082	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79000546	chr5:112349082-112349083	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150445267	chr5:112349083-112349084	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138329876	chr5:112349085-112349086	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370977840	chr5:112349087-112349088	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184122046	chr5:112349094-112349095	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149633478	chr5:112349109-112349110	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369596242	chr5:112349116-112349117	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568235501	chr5:112349130-112349131	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528679648	chr5:112349142-112349143	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181023764	chr5:112349150-112349151	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144451239	chr5:112349158-112349159	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199970082	chr5:112349180-112349181	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374619019	chr5:112349198-112349199	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185047058	chr5:112349217-112349218	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376212582	chr5:112349219-112349220	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540122362	chr5:112349261-112349262	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558208044	chr5:112349276-112349277	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13357043	chr5:112349294-112349295	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs6892784	chr5:112349297-112349298	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs561739767	chr5:112349317-112349318	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4705749	chr5:112349379-112349380	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs190878661	chr5:112349400-112349401	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17135261	chr5:112349407-112349408	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs182138466	chr5:112349410-112349411	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187263544	chr5:112349415-112349416	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549902955	chr5:112349435-112349436	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560187966	chr5:112349483-112349484	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575447828	chr5:112349528-112349529	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72801293	chr5:112349553-112349554	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567156851	chr5:112349613-112349614	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78244237	chr5:112349650-112349651	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72801295	chr5:112349677-112349678	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs146321839	chr5:112349690-112349691	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139716429	chr5:112349713-112349714	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144432133	chr5:112349759-112349760	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573481342	chr5:112349774-112349775	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191723514	chr5:112349780-112349781	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146118186	chr5:112349781-112349782	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372558401	chr5:112349801-112349802	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544323483	chr5:112349804-112349805	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562449153	chr5:112349835-112349836	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565475137	chr5:112349838-112349839	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577516757	chr5:112349841-112349842	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140029956	chr5:112349854-112349855	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149851081	chr5:112349855-112349856	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552042127	chr5:112349910-112349911	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371925732	chr5:112349930-112349931	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527564471	chr5:112349943-112349944	Strong transcription Weak transcription 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:190 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112314200-112349600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr5:112314200-112356800	Weak transcription	Stomach Mucosa	stomach
3	chr5:112314200-112362600	Weak transcription	Colonic Mucosa	Colon
4	chr5:112314800-112349200	Weak transcription	Brain Substantia Nigra	brain
5	chr5:112315600-112362600	Weak transcription	Brain Angular Gyrus	brain
6	chr5:112317800-112366200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:112318400-112365600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:112319800-112363800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr5:112320000-112364200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:112320600-112362600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:112321200-112364800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:112321400-112363800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr5:112321600-112353800	Weak transcription	Fetal Heart	heart
14	chr5:112322600-112362400	Weak transcription	Psoas Muscle	Psoas
15	chr5:112322800-112362400	Weak transcription	Esophagus	oesophagus
16	chr5:112324800-112369800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:112327800-112364600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:112329400-112356800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr5:112330200-112362800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:112332400-112352400	Strong transcription	Dnd41	blood
21	chr5:112332400-112355800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:112332400-112372600	Weak transcription	Fetal Brain Male	brain
23	chr5:112332800-112352200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr5:112333000-112349400	Weak transcription	NHLF	lung
25	chr5:112333000-112359800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:112333200-112362400	Weak transcription	Right Ventricle	heart
27	chr5:112334000-112365200	Strong transcription	Placenta	Placenta
28	chr5:112334200-112350400	Strong transcription	Fetal Intestine Large	intestine
29	chr5:112334200-112350400	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr5:112334200-112352600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:112334800-112352200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr5:112335600-112350200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr5:112335600-112353200	Strong transcription	Fetal Thymus	thymus
34	chr5:112335800-112350600	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr5:112335800-112351000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:112336400-112350200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:112336400-112350800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:112338600-112360800	Weak transcription	Aorta	Aorta
39	chr5:112339200-112349400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr5:112339200-112362400	Weak transcription	Pancreas	Pancrea
41	chr5:112339400-112356600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:112339400-112362000	Weak transcription	Gastric	stomach
43	chr5:112339800-112349400	Weak transcription	Thymus	Thymus
44	chr5:112339800-112349600	Weak transcription	Spleen	Spleen
45	chr5:112339800-112349800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:112340400-112362400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:112340400-112362600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr5:112340400-112362600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr5:112340600-112349600	Weak transcription	HMEC	breast
50	chr5:112341600-112349200	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links