Variant report

Variant	nsv971925
Chromosome Location	chr11:5505050-5505658
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	EBF1	chr11:5504852-5505132	GM12878	blood:	n/a	n/a
2	MAFK	chr11:5505362-5505395	HepG2	liver:	n/a	chr11:5505379-5505394 chr11:5505374-5505394 chr11:5505384-5505395 chr11:5505383-5505394 chr11:5505384-5505395
3	POLR2A	chr11:5504973-5508441	K562	blood:	n/a	n/a
4	POLR2A	chr11:5504972-5505496	K562	blood:	n/a	n/a
5	POLR2A	chr11:5505163-5505345	K562	blood:	n/a	n/a
6	POLR2A	chr11:5504855-5512186	K562	blood:	n/a	n/a
7	POLR2A	chr11:5504830-5505808	K562	blood:	n/a	n/a
8	POLR2A	chr11:5505011-5505500	K562	blood:	n/a	n/a
9	POLR2A	chr11:5505356-5505361	K562	blood:	n/a	n/a
10	POLR2A	chr11:5505555-5505556	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:5505056-5506158	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:5502379-5505643..11:5721056-5732713	GM12878	blood:
2	11:5502379-5505643..11:5527719-5533869	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
OR52D1	TF binding region
ENSG00000132274	chromatin interactions
ENSG00000175520	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554235853	chr11:5505055-5505056	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs192853299	chr11:5505060-5505061	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs183743185	chr11:5505116-5505117	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs376313874	chr11:5505132-5505133	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs12283559	chr11:5505149-5505150	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs545031067	chr11:5505208-5505209	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs577770217	chr11:5505210-5505211	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs187111457	chr11:5505232-5505233	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs543184892	chr11:5505239-5505240	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs374081022	chr11:5505268-5505269	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs562664291	chr11:5505271-5505272	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs549064166	chr11:5505302-5505303	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs567338061	chr11:5505365-5505366	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs191866247	chr11:5505404-5505405	ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs551148781	chr11:5505411-5505412	ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs16931569	chr11:5505445-5505446	ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs183762635	chr11:5505525-5505526	ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs557755198	chr11:5505556-5505557	ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs530089349	chr11:5505592-5505593	ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs539565590	chr11:5505607-5505608	Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5504800-5505400	Genic enhancers	K562	blood
2	chr11:5505400-5505600	ZNF genes & repeats	K562	blood
3	chr11:5505600-5506600	Strong transcription	K562	blood

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