Variant report

Variant	esv3356412
Chromosome Location	chr3:142955262-142955623
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142948047..142951312-chr3:142952653..142957193,4	K562	blood:
2	chr3:142951962..142955904-chr3:142971401..142974768,3	K562	blood:
3	chr3:142951557..142953116-chr3:142953358..142955384,2	K562	blood:
4	chr3:142940072..142941625-chr3:142954271..142955900,2	K562	blood:
5	chr3:142954351..142956458-chr3:142960764..142964653,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557809163	chr3:142955266-142955267	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs575018828	chr3:142955273-142955274	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs116592134	chr3:142955280-142955281	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs368982366	chr3:142955284-142955285	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs7649790	chr3:142955290-142955291	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs561304991	chr3:142955303-142955304	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs573999596	chr3:142955351-142955352	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs541325177	chr3:142955352-142955353	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs187102596	chr3:142955359-142955360	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs368078869	chr3:142955389-142955390	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs533557782	chr3:142955406-142955407	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs7627815	chr3:142955429-142955430	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs563827223	chr3:142955433-142955434	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs374306169	chr3:142955453-142955454	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs137975336	chr3:142955500-142955501	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs549400095	chr3:142955508-142955509	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs115928852	chr3:142955542-142955543	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs551192547	chr3:142955549-142955550	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142941600-142956400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:142949800-142956000	Weak transcription	Thymus	Thymus
3	chr3:142951800-142955400	Weak transcription	K562	blood
4	chr3:142953200-142957600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:142953800-142957600	Weak transcription	HSMM	muscle
6	chr3:142954000-142958400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:142954200-142955400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:142954600-142956000	Weak transcription	HSMMtube	muscle
9	chr3:142954800-142962000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:142955000-142955600	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr3:142955000-142956600	Enhancers	Primary T cells from cord blood	blood
12	chr3:142955000-142957000	Enhancers	Dnd41	blood
13	chr3:142955200-142955400	Flanking Active TSS	GM12878-XiMat	blood
14	chr3:142955200-142955600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr3:142955200-142956200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:142955200-142956400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:142955200-142956400	Enhancers	Primary B cells from cord blood	blood
18	chr3:142955200-142956600	Enhancers	Fetal Kidney	kidney
19	chr3:142955200-142956600	Enhancers	Fetal Lung	lung
20	chr3:142955200-142956600	Enhancers	NHDF-Ad	bronchial
21	chr3:142955200-142957000	Enhancers	Primary B cells from peripheral blood	blood
22	chr3:142955200-142957400	Enhancers	Fetal Thymus	thymus
23	chr3:142955200-142972000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr3:142955400-142955600	Enhancers	Placenta	Placenta
25	chr3:142955400-142955600	Enhancers	GM12878-XiMat	blood
26	chr3:142955400-142956000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:142955400-142956000	Enhancers	HUVEC	blood vessel
28	chr3:142955400-142956400	Enhancers	K562	blood
29	chr3:142955400-142956800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:142955600-142955800	Flanking Active TSS	GM12878-XiMat	blood
31	chr3:142955600-142956400	Enhancers	Fetal Stomach	stomach
32	chr3:142955600-142956400	Enhancers	NH-A	brain
33	chr3:142955600-142957600	Weak transcription	Placenta	Placenta

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