Variant report

Variant	nsv519099
Chromosome Location	chr3:113436847-113450495
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:113427379..113429367-chr3:113435162..113437833,2	K562	blood:
2	chr3:113446389..113448744-chr3:113460287..113462376,2	K562	blood:
3	chr3:113440561..113444692-chr3:113452909..113456959,4	K562	blood:
4	chr3:113449046..113452860-chr3:113462915..113466882,4	MCF-7	breast:
5	chr3:113445084..113447800-chr3:113453613..113455367,2	MCF-7	breast:
6	chr3:113413854..113415987-chr3:113438582..113440187,2	MCF-7	breast:
7	chr3:113442105..113445216-chr3:113449989..113452556,3	MCF-7	breast:
8	chr3:113440653..113444189-chr3:113444738..113447861,4	K562	blood:
9	chr3:113414307..113416496-chr3:113445086..113447367,2	K562	blood:
10	chr3:113440653..113444189-chr3:113445171..113447861,3	K562	blood:
11	chr3:113371641..113374118-chr3:113442393..113444136,2	K562	blood:
12	chr3:113441202..113443932-chr3:113464494..113467019,3	MCF-7	breast:
13	chr3:113440653..113444189-chr3:113444738..113447861,4	K562	blood:
14	chr3:113437875..113440758-chr3:113442135..113445039,2	MCF-7	breast:
15	chr3:113435155..113437816-chr3:113460130..113462282,2	K562	blood:
16	chr3:113449273..113452102-chr3:113460685..113464475,4	K562	blood:
17	chr3:113448745..113451424-chr3:113457105..113459746,2	K562	blood:
18	chr3:113437875..113440758-chr3:113442135..113445039,2	MCF-7	breast:
19	chr3:113441473..113444141-chr3:113463722..113467247,4	MCF-7	breast:
20	chr3:113449396..113451333-chr3:113460662..113462538,2	MCF-7	breast:
21	chr3:113442105..113445216-chr3:113449989..113452556,3	MCF-7	breast:
22	chr3:113425527..113427592-chr3:113438461..113440250,2	K562	blood:
23	chr3:113419849..113421938-chr3:113437398..113440132,2	MCF-7	breast:
24	chr3:113440653..113444189-chr3:113445171..113447861,3	K562	blood:

No data

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

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

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

Extended variants
information (count: 530 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:530 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12695294	chr3:113436847-113436848	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550498651	chr3:113436875-113436876	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs531487982	chr3:113436902-113436903	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs117068007	chr3:113436916-113436917	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs181271561	chr3:113436931-113436932	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs186242500	chr3:113436978-113436979	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs372797649	chr3:113436979-113436980	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs74554993	chr3:113437054-113437055	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374367812	chr3:113437056-113437057	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566162206	chr3:113437070-113437071	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539671750	chr3:113437071-113437072	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551934635	chr3:113437074-113437075	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570114737	chr3:113437092-113437093	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139653752	chr3:113437105-113437106	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574632442	chr3:113437181-113437182	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142952119	chr3:113437218-113437219	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371814280	chr3:113437252-113437253	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189684140	chr3:113437427-113437428	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146165253	chr3:113437434-113437435	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35007726	chr3:113437435-113437436	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140172897	chr3:113437442-113437443	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572087362	chr3:113437451-113437452	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545716605	chr3:113437452-113437453	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557035839	chr3:113437552-113437553	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564322387	chr3:113437574-113437575	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183379851	chr3:113437594-113437595	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1349942	chr3:113437610-113437611	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1378180	chr3:113437612-113437613	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187781127	chr3:113437649-113437650	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561609346	chr3:113437665-113437666	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149778127	chr3:113437695-113437696	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114406338	chr3:113437705-113437706	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145692196	chr3:113437742-113437743	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533482347	chr3:113437755-113437756	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551553510	chr3:113437772-113437773	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570263988	chr3:113437809-113437810	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531085146	chr3:113437933-113437934	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1049157	chr3:113437980-113437981	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148536673	chr3:113438023-113438024	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7648021	chr3:113438036-113438037	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs146414976	chr3:113438215-113438216	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535474666	chr3:113438245-113438246	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553716747	chr3:113438265-113438266	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563235930	chr3:113438270-113438271	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565507101	chr3:113438278-113438279	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374360288	chr3:113438281-113438282	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190689462	chr3:113438285-113438286	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557523333	chr3:113438288-113438289	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373977890	chr3:113438327-113438328	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575841973	chr3:113438439-113438440	Weak transcription Strong transcription Genic enhancers	n/a	n/a	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:468 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

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	chr3:113431600-113437000	Weak transcription	NHEK	skin
4	chr3:113431600-113439600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:113431600-113443600	Weak transcription	Brain Substantia Nigra	brain
6	chr3:113431800-113438800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr3:113432000-113439600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:113432200-113439400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr3:113432200-113440600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:113432200-113447000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:113432400-113439400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:113432600-113437000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:113432600-113438600	Weak transcription	Fetal Lung	lung
14	chr3:113432600-113438800	Weak transcription	Primary T cells from cord blood	blood
15	chr3:113432600-113438800	Weak transcription	HSMMtube	muscle
16	chr3:113432800-113463000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:113432800-113463000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:113433000-113439200	Weak transcription	Ovary	ovary
19	chr3:113433000-113445400	Weak transcription	Fetal Intestine Small	intestine
20	chr3:113433000-113460000	Weak transcription	Aorta	Aorta
21	chr3:113433200-113439400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:113433600-113450200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:113433800-113438400	Weak transcription	Placenta	Placenta
24	chr3:113433800-113439000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr3:113433800-113441600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:113433800-113442800	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr3:113434000-113440600	Weak transcription	NHLF	lung
28	chr3:113434000-113441800	Weak transcription	Fetal Kidney	kidney
29	chr3:113434000-113444600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:113434200-113437000	Strong transcription	HUVEC	blood vessel
31	chr3:113434400-113437200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:113434400-113438800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr3:113434600-113439200	Weak transcription	HepG2	liver
34	chr3:113434800-113439400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr3:113434800-113439400	Weak transcription	Left Ventricle	heart
36	chr3:113434800-113440000	Weak transcription	Small Intestine	intestine
37	chr3:113435000-113437000	Weak transcription	Fetal Thymus	thymus
38	chr3:113435000-113437600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr3:113435000-113438000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr3:113435000-113438600	Weak transcription	Fetal Heart	heart
41	chr3:113435000-113444200	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr3:113435000-113444800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr3:113435000-113463000	Weak transcription	Brain Germinal Matrix	brain
44	chr3:113435200-113438400	Weak transcription	Hela-S3	cervix
45	chr3:113435200-113439200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr3:113435200-113439400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr3:113435200-113450400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:113435200-113463000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr3:113435200-113463000	Weak transcription	Esophagus	oesophagus
50	chr3:113435400-113437000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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