Variant report

Variant	nsv979784
Chromosome Location	chr3:133616134-133616835
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133613123..133615156-chr3:133615262..133617720,2	MCF-7	breast:
2	chr3:133605158..133607453-chr3:133614736..133616247,2	K562	blood:
3	chr3:133612582..133614993-chr3:133615630..133617842,2	K562	blood:

Variant related genes	Relation type
ENSG00000154917	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs940900	chr3:133616135-133616136	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529322750	chr3:133616154-133616155	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs573133815	chr3:133616165-133616166	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs940899	chr3:133616201-133616202	Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187216044	chr3:133616229-133616230	Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs560499835	chr3:133616268-133616269	Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375366311	chr3:133616307-133616308	Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs139960046	chr3:133616338-133616339	Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs375891153	chr3:133616340-133616341	Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs544168538	chr3:133616360-133616361	Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs940898	chr3:133616371-133616372	Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs190325933	chr3:133616373-133616374	Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs183060693	chr3:133616384-133616385	Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs2692676	chr3:133616490-133616491	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs570837921	chr3:133616504-133616505	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs74896973	chr3:133616544-133616545	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs376675520	chr3:133616613-133616614	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs2222634	chr3:133616664-133616665	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs549412704	chr3:133616670-133616671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs569528530	chr3:133616671-133616672	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs2222633	chr3:133616676-133616677	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs74895883	chr3:133616678-133616679	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs550566398	chr3:133616680-133616681	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs79254562	chr3:133616683-133616684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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	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
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
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	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
Hailey-hailey disease	17597066	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133615200-133616200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
2	chr3:133615600-133616200	Weak transcription	Spleen	Spleen
3	chr3:133615600-133616400	Enhancers	Pancreas	Pancrea
4	chr3:133616000-133616600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:133616200-133616400	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr3:133616200-133616400	Enhancers	Right Atrium	heart
7	chr3:133616400-133635200	Weak transcription	Pancreas	Pancrea

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