Variant report

Variant	nsv965362
Chromosome Location	chr3:113437936-113441255
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:113440653..113444189-chr3:113444738..113447861,4	K562	blood:
2	chr3:113440653..113444189-chr3:113445171..113447861,3	K562	blood:
3	chr3:113425527..113427592-chr3:113438461..113440250,2	K562	blood:
4	chr3:113419849..113421938-chr3:113437398..113440132,2	MCF-7	breast:
5	chr3:113441202..113443932-chr3:113464494..113467019,3	MCF-7	breast:
6	chr3:113437875..113440758-chr3:113442135..113445039,2	MCF-7	breast:
7	chr3:113440561..113444692-chr3:113452909..113456959,4	K562	blood:
8	chr3:113413854..113415987-chr3:113438582..113440187,2	MCF-7	breast:

No data

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	NAA50	hsa-miR-155-5p	chr3:113439890-113439884
2	NAA50	hsa-miR-215-5p	chr3:113439718-113439712
3	NAA50	hsa-miR-192-5p	chr3:113439712-113439730
4	NAA50	hsa-miR-192-5p	chr3:113439718-113439712
5	NAA50	hsa-miR-215-5p	chr3:113439712-113439730

Variant related genes	Relation type
ENSG00000121579	chromatin interactions
ENSG00000242659	chromatin interactions
ENSG00000114573	chromatin interactions
ENSG00000176542	chromatin interactions

Extended variants
information (count: 125 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1049157	chr3:113437980-113437981	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148536673	chr3:113438023-113438024	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7648021	chr3:113438036-113438037	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs146414976	chr3:113438215-113438216	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535474666	chr3:113438245-113438246	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553716747	chr3:113438265-113438266	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563235930	chr3:113438270-113438271	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565507101	chr3:113438278-113438279	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374360288	chr3:113438281-113438282	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190689462	chr3:113438285-113438286	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557523333	chr3:113438288-113438289	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373977890	chr3:113438327-113438328	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575841973	chr3:113438439-113438440	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546154646	chr3:113438503-113438504	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142846139	chr3:113438598-113438599	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs555269690	chr3:113438680-113438681	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs573583601	chr3:113438691-113438692	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs540933721	chr3:113438786-113438787	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs7648784	chr3:113438807-113438808	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533125399	chr3:113438812-113438813	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs545491495	chr3:113438836-113438837	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs149220995	chr3:113438844-113438845	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs557612604	chr3:113438853-113438854	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs563760372	chr3:113438868-113438869	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs531178936	chr3:113438891-113438892	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549578477	chr3:113438907-113438908	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs567996117	chr3:113438920-113438921	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs183793414	chr3:113438926-113438927	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs115532727	chr3:113438985-113438986	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs540544926	chr3:113439005-113439006	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs565672998	chr3:113439023-113439024	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs539024657	chr3:113439065-113439066	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs188283678	chr3:113439080-113439081	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs147693467	chr3:113439087-113439088	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs569388931	chr3:113439088-113439089	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs141379034	chr3:113439093-113439094	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs146980042	chr3:113439123-113439124	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs573472415	chr3:113439144-113439145	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs541318687	chr3:113439153-113439154	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs117298828	chr3:113439215-113439216	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs62265553	chr3:113439243-113439244	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs1801388	chr3:113439310-113439311	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs147649168	chr3:113439311-113439312	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs545069120	chr3:113439324-113439325	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs563803406	chr3:113439327-113439328	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs576825241	chr3:113439362-113439363	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs376776576	chr3:113439363-113439364	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs369346867	chr3:113439364-113439365	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs140867057	chr3:113439466-113439467	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs561489644	chr3:113439511-113439512	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	22174824	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:243 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113431400-113439400	Weak transcription	Brain Hippocampus Middle	brain
2	chr3:113431400-113439400	Weak transcription	K562	blood
3	chr3:113431600-113439600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:113431600-113443600	Weak transcription	Brain Substantia Nigra	brain
5	chr3:113431800-113438800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr3:113432000-113439600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:113432200-113439400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:113432200-113440600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:113432200-113447000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr3:113432400-113439400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:113432600-113438600	Weak transcription	Fetal Lung	lung
12	chr3:113432600-113438800	Weak transcription	Primary T cells from cord blood	blood
13	chr3:113432600-113438800	Weak transcription	HSMMtube	muscle
14	chr3:113432800-113463000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:113432800-113463000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:113433000-113439200	Weak transcription	Ovary	ovary
17	chr3:113433000-113445400	Weak transcription	Fetal Intestine Small	intestine
18	chr3:113433000-113460000	Weak transcription	Aorta	Aorta
19	chr3:113433200-113439400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:113433600-113450200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:113433800-113438400	Weak transcription	Placenta	Placenta
22	chr3:113433800-113439000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr3:113433800-113441600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:113433800-113442800	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr3:113434000-113440600	Weak transcription	NHLF	lung
26	chr3:113434000-113441800	Weak transcription	Fetal Kidney	kidney
27	chr3:113434000-113444600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:113434400-113438800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:113434600-113439200	Weak transcription	HepG2	liver
30	chr3:113434800-113439400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr3:113434800-113439400	Weak transcription	Left Ventricle	heart
32	chr3:113434800-113440000	Weak transcription	Small Intestine	intestine
33	chr3:113435000-113438000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr3:113435000-113438600	Weak transcription	Fetal Heart	heart
35	chr3:113435000-113444200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr3:113435000-113444800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr3:113435000-113463000	Weak transcription	Brain Germinal Matrix	brain
38	chr3:113435200-113438400	Weak transcription	Hela-S3	cervix
39	chr3:113435200-113439200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr3:113435200-113439400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr3:113435200-113450400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:113435200-113463000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr3:113435200-113463000	Weak transcription	Esophagus	oesophagus
44	chr3:113435400-113438800	Weak transcription	Fetal Brain Male	brain
45	chr3:113435400-113439400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:113435400-113439400	Weak transcription	Colon Smooth Muscle	Colon
47	chr3:113435400-113439400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr3:113435400-113444000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:113435400-113456600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr3:113435400-113462600	Weak transcription	Brain Angular Gyrus	brain

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