Variant report

Variant	esv3366221
Chromosome Location	chr3:121142814-121143608
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	chr3:121143314..121145833-chr3:121149976..121152815,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540987011	chr3:121142854-121142855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73191773	chr3:121142904-121142905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533171155	chr3:121142914-121142915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376139100	chr3:121142935-121142936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547274227	chr3:121142940-121142941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543631378	chr3:121143000-121143001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75649166	chr3:121143006-121143007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529348753	chr3:121143063-121143064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567791407	chr3:121143103-121143104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549393159	chr3:121143108-121143109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559128814	chr3:121143119-121143120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13095841	chr3:121143145-121143146	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551793389	chr3:121143209-121143210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571570469	chr3:121143231-121143232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182609805	chr3:121143234-121143235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139266226	chr3:121143268-121143269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556144212	chr3:121143269-121143270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185756616	chr3:121143301-121143302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189727834	chr3:121143349-121143350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72587260	chr3:121143384-121143385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397828138	chr3:121143385-121143386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs3830201	chr3:121143386-121143387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182338198	chr3:121143473-121143474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555409898	chr3:121143476-121143477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142666785	chr3:121143530-121143531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	17953491	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121129200-121148800	Weak transcription	GM12878-XiMat	blood
2	chr3:121134200-121152600	Weak transcription	Hela-S3	cervix
3	chr3:121134600-121146400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:121135800-121148600	Weak transcription	Thymus	Thymus
5	chr3:121135800-121149000	Weak transcription	A549	lung
6	chr3:121137600-121145800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:121137800-121148800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:121139000-121145800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:121139200-121150600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr3:121139200-121186000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:121139400-121147400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:121140000-121143600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr3:121140200-121149000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:121140600-121144600	Weak transcription	Dnd41	blood
15	chr3:121140600-121147000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr3:121140600-121150800	Weak transcription	HSMM	muscle
17	chr3:121140600-121170800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:121140800-121148400	Weak transcription	Fetal Thymus	thymus
19	chr3:121140800-121149000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:121140800-121150800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr3:121140800-121151400	Weak transcription	HepG2	liver
22	chr3:121141000-121148800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr3:121141200-121186000	Weak transcription	NHEK	skin
24	chr3:121141400-121143000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:121141600-121145200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr3:121141600-121147000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:121141600-121148600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr3:121141800-121146800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:121141800-121147200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:121142000-121145400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr3:121142200-121144800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr3:121142200-121161600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:121142600-121151000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:121143000-121144200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:121143000-121147400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:121143000-121148200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:121143200-121145800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr3:121143200-121147400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:121143200-121148600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr3:121143200-121150800	Weak transcription	NHLF	lung
41	chr3:121143400-121150800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr3:121143600-121160000	Strong transcription	Monocytes-CD14+_RO01746	blood

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