Variant report

Variant	esv33095
Chromosome Location	chr11:47054281-47064767
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	ATF1	chr11:47056675-47056990	K562	blood:	n/a	n/a
2	CEBPB	chr11:47063584-47063778	K562	blood:	n/a	n/a
3	CEBPB	chr11:47063595-47063754	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr11:47061379-47061451	GM13976	blood:	n/a	n/a
5	CTCF	chr11:47054957-47055021	GM20000	blood:	n/a	n/a
6	CUX1	chr11:47063914-47063925	GM12878	blood:	n/a	n/a
7	E2F4	chr11:47054750-47054867	MCF10A-Er-Src	breast:	n/a	n/a
8	ELF1	chr11:47056656-47056919	K562	blood:	n/a	n/a
9	EP300	chr11:47054994-47055279	SK-N-SH_RA	brain:	n/a	n/a
10	FOSL2	chr11:47061252-47061433	HepG2	liver:	n/a	n/a
11	GATA2	chr11:47054935-47055323	SH-SY5Y	brain:	n/a	n/a
12	GATA3	chr11:47054811-47055403	SK-N-SH	brain:	n/a	n/a
13	GATA3	chr11:47056653-47056797	SH-SY5Y	brain:	n/a	n/a
14	GATA3	chr11:47054929-47055270	SH-SY5Y	brain:	n/a	n/a
15	GATA3	chr11:47054967-47055377	SK-N-SH	brain:	n/a	n/a
16	MAFK	chr11:47063813-47063910	HepG2	liver:	n/a	chr11:47063878-47063889 chr11:47063877-47063888
17	MYC	chr11:47060854-47060996	MCF-7	breast:	n/a	n/a
18	MYC	chr11:47057126-47057511	A549	lung:	n/a	n/a
19	NR2F2	chr11:47058941-47059324	K562	blood:	n/a	n/a
20	PAX5	chr11:47060707-47061097	GM12878	blood:	n/a	n/a
21	PAX5	chr11:47060680-47061085	GM12878	blood:	n/a	n/a
22	PAX5	chr11:47060605-47061114	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:47059624-47059728	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr11:47054855-47055384	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr11:47056869-47056929	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr11:47060853-47060970	MCF-7	breast:	n/a	n/a
27	REST	chr11:47054934-47055352	PFSK-1	brain:	n/a	n/a
28	STAT3	chr11:47064588-47064620	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr11:47063878-47063991	MCF10A-Er-Src	breast:	n/a	n/a
30	TBL1XR1	chr11:47054504-47054606	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47048648..47051358-chr11:47053601..47056863,3	K562	blood:

Variant related genes	Relation type
ENSG00000271350	TF binding region

Extended variants
information (count: 306 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369929656	chr11:47054318-47054319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374368563	chr11:47054324-47054325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573660288	chr11:47054348-47054349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182797768	chr11:47054356-47054357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138521671	chr11:47054367-47054368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143848109	chr11:47054374-47054375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7101470	chr11:47054448-47054449	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs565349247	chr11:47054501-47054502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554783037	chr11:47054558-47054559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575499319	chr11:47054586-47054587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143660747	chr11:47054642-47054643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187082393	chr11:47054647-47054648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192806318	chr11:47054695-47054696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565681382	chr11:47054696-47054697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184304130	chr11:47054713-47054714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188217135	chr11:47054781-47054782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs398075916	chr11:47054787-47054788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs398015981	chr11:47054788-47054789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200429041	chr11:47054789-47054790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540307036	chr11:47054790-47054791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187721834	chr11:47054817-47054818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150603691	chr11:47054860-47054861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138805517	chr11:47054902-47054903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149376974	chr11:47054909-47054910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530794275	chr11:47054916-47054917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs193101505	chr11:47054932-47054933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368669033	chr11:47054944-47054945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567609450	chr11:47055006-47055007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11607501	chr11:47055070-47055071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536242933	chr11:47055114-47055115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185209200	chr11:47055139-47055140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552698805	chr11:47055167-47055168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144571340	chr11:47055242-47055243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538372165	chr11:47055273-47055274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185575539	chr11:47055278-47055279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139291874	chr11:47055284-47055285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144165502	chr11:47055328-47055329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554831968	chr11:47055387-47055388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575075953	chr11:47055389-47055390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540572025	chr11:47055493-47055494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552962617	chr11:47055515-47055516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145156469	chr11:47055518-47055519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189000430	chr11:47055591-47055592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7122075	chr11:47055600-47055601	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs139954401	chr11:47055615-47055616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143176253	chr11:47055621-47055622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530718096	chr11:47055656-47055657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550843452	chr11:47055668-47055669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113452175	chr11:47055704-47055705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114584216	chr11:47055883-47055884	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	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
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47026800-47080200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:47027400-47056000	Weak transcription	Fetal Intestine Small	intestine
3	chr11:47043200-47055200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:47043600-47054800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:47043800-47055800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr11:47045800-47056600	Weak transcription	Hela-S3	cervix
7	chr11:47048800-47058000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr11:47049200-47055000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:47049400-47054600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:47050400-47055200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:47050600-47056000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:47053400-47077600	Weak transcription	Primary T cells from cord blood	blood
13	chr11:47054400-47055400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:47054400-47055400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr11:47054600-47054800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr11:47054600-47055400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:47054600-47055400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:47054600-47055600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr11:47054800-47055400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:47054800-47055400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr11:47054800-47055600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:47054800-47055600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr11:47054800-47055600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:47055000-47055200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr11:47055000-47055200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:47055000-47055400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr11:47055000-47055400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr11:47055000-47055400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:47055000-47055400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr11:47055000-47055400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:47055000-47055400	Enhancers	NHDF-Ad	bronchial
32	chr11:47055200-47055400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr11:47055200-47055600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:47055200-47057600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:47055200-47062000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr11:47055400-47055600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr11:47055400-47058200	Weak transcription	NHDF-Ad	bronchial
38	chr11:47055400-47058800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:47055400-47077200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:47055600-47077800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:47055800-47056000	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr11:47055800-47057000	Enhancers	K562	blood
43	chr11:47056000-47056200	ZNF genes & repeats	Fetal Intestine Small	intestine
44	chr11:47056000-47056400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
45	chr11:47056000-47056600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
46	chr11:47056200-47058400	Weak transcription	Fetal Intestine Small	intestine
47	chr11:47056400-47073600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr11:47056600-47057200	ZNF genes & repeats	Hela-S3	cervix
49	chr11:47056600-47073800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr11:47057000-47058600	Weak transcription	K562	blood

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