Variant report

Variant	nsv963340
Chromosome Location	chr3:93779575-93780186
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:93780089-93780159	Spleen_OC	spleen:	n/a	n/a
2	POLR2A	chr3:93779905-93779907	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr3:93778962-93779890	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:93779976..93781665-chr3:93890045..93892017,2	K562	blood:

Variant related genes	Relation type
NSUN3	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565148029	chr3:93779591-93779592	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs139431863	chr3:93779594-93779595	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs181987919	chr3:93779648-93779649	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs55764558	chr3:93779664-93779665	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs112007826	chr3:93779739-93779740	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs149639484	chr3:93779752-93779753	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs143681721	chr3:93779800-93779801	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs141897370	chr3:93779801-93779802	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs559246351	chr3:93779822-93779823	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs17855824	chr3:93779860-93779861	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539262760	chr3:93779885-93779886	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs559621227	chr3:93779907-93779908	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs367556762	chr3:93779916-93779917	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371038397	chr3:93779923-93779924	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557859422	chr3:93779942-93779943	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371067277	chr3:93779964-93779965	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560807397	chr3:93779996-93779997	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543404174	chr3:93780048-93780049	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146238237	chr3:93780049-93780050	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374959964	chr3:93780071-93780072	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374209976	chr3:93780096-93780097	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs149534991	chr3:93780100-93780101	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs200292096	chr3:93780101-93780102	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs573628962	chr3:93780103-93780104	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs148600595	chr3:93780104-93780105	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs61739170	chr3:93780109-93780110	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs17854352	chr3:93780116-93780117	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs372488392	chr3:93780124-93780125	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs377018855	chr3:93780125-93780126	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs368572881	chr3:93780136-93780137	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs144867779	chr3:93780146-93780147	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	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
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:93708400-93780800	Weak transcription	K562	blood
2	chr3:93723600-93780800	Weak transcription	Fetal Lung	lung
3	chr3:93723600-93780800	Weak transcription	HSMMtube	muscle
4	chr3:93726200-93780800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:93740600-93780800	Weak transcription	NHDF-Ad	bronchial
6	chr3:93743600-93780800	Weak transcription	Aorta	Aorta
7	chr3:93751000-93780600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:93753800-93780800	Weak transcription	HUVEC	blood vessel
9	chr3:93754200-93781000	Weak transcription	Small Intestine	intestine
10	chr3:93754400-93780800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr3:93755800-93780800	Weak transcription	Primary B cells from cord blood	blood
12	chr3:93756200-93780600	Weak transcription	GM12878-XiMat	blood
13	chr3:93756200-93780800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr3:93756200-93780800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:93756200-93780800	Weak transcription	NHEK	skin
16	chr3:93756200-93780800	Weak transcription	Osteobl	bone
17	chr3:93756600-93780800	Weak transcription	Colon Smooth Muscle	Colon
18	chr3:93757000-93780800	Weak transcription	HMEC	breast
19	chr3:93761400-93780800	Weak transcription	Brain Anterior Caudate	brain
20	chr3:93762000-93780800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr3:93762000-93781000	Weak transcription	Psoas Muscle	Psoas
22	chr3:93762600-93780800	Weak transcription	HSMM	muscle
23	chr3:93763600-93780800	Weak transcription	Brain Germinal Matrix	brain
24	chr3:93763600-93780800	Weak transcription	Fetal Brain Female	brain
25	chr3:93763600-93780800	Weak transcription	Right Ventricle	heart
26	chr3:93763600-93781000	Weak transcription	Esophagus	oesophagus
27	chr3:93763600-93781000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr3:93763600-93781400	Weak transcription	Gastric	stomach
29	chr3:93763800-93780800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr3:93763800-93780800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr3:93763800-93780800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:93763800-93780800	Weak transcription	Fetal Intestine Large	intestine
33	chr3:93763800-93781000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:93763800-93781000	Weak transcription	Ovary	ovary
35	chr3:93764000-93780200	Weak transcription	Thymus	Thymus
36	chr3:93764000-93780800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:93764200-93780600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr3:93764200-93780600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:93764200-93780800	Weak transcription	Adipose Nuclei	Adipose
40	chr3:93764200-93780800	Weak transcription	Brain Hippocampus Middle	brain
41	chr3:93764200-93781000	Weak transcription	Pancreas	Pancrea
42	chr3:93764200-93781400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr3:93764200-93781400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr3:93764200-93781600	Weak transcription	Spleen	Spleen
45	chr3:93764600-93780200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr3:93764600-93780800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr3:93764600-93781000	Weak transcription	Placenta	Placenta
48	chr3:93764800-93780800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr3:93764800-93780800	Weak transcription	Brain Angular Gyrus	brain
50	chr3:93766200-93780800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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