Variant report

Variant	esv998583
Chromosome Location	chr11:47057087-47065609
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	CEBPB	chr11:47063595-47063754	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr11:47063584-47063778	K562	blood:	n/a	n/a
3	CTCF	chr11:47061379-47061451	GM13976	blood:	n/a	n/a
4	CUX1	chr11:47063914-47063925	GM12878	blood:	n/a	n/a
5	FOSL2	chr11:47061252-47061433	HepG2	liver:	n/a	n/a
6	MAFK	chr11:47063813-47063910	HepG2	liver:	n/a	chr11:47063878-47063889 chr11:47063877-47063888
7	MYC	chr11:47060854-47060996	MCF-7	breast:	n/a	n/a
8	MYC	chr11:47057126-47057511	A549	lung:	n/a	n/a
9	NR2F2	chr11:47058941-47059324	K562	blood:	n/a	n/a
10	PAX5	chr11:47060707-47061097	GM12878	blood:	n/a	n/a
11	PAX5	chr11:47060605-47061114	GM12878	blood:	n/a	n/a
12	PAX5	chr11:47060680-47061085	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:47060853-47060970	MCF-7	breast:	n/a	n/a
14	POLR2A	chr11:47059624-47059728	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr11:47065251-47065315	H1-hESC	embryonic stem cell:	n/a	n/a
16	STAT3	chr11:47064588-47064620	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr11:47063878-47063991	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000271350	TF binding region

Extended variants
information (count: 231 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:231 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188541423	chr11:47057106-47057107	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs542366541	chr11:47057190-47057191	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs562238408	chr11:47057238-47057239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536962574	chr11:47057248-47057249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574531208	chr11:47057310-47057311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540461126	chr11:47057316-47057317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560183885	chr11:47057320-47057321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532276178	chr11:47057325-47057326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551714768	chr11:47057457-47057458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373135020	chr11:47057550-47057551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373352083	chr11:47057585-47057586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181060128	chr11:47057589-47057590	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
13	rs181596312	chr11:47057592-47057593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11530161	chr11:47057606-47057607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11529361	chr11:47057607-47057608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11529362	chr11:47057629-47057630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530603265	chr11:47057729-47057730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185960406	chr11:47057745-47057746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190913282	chr11:47057752-47057753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532424933	chr11:47057773-47057774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528807161	chr11:47057777-47057778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182172309	chr11:47057782-47057783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562158106	chr11:47057788-47057789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7108184	chr11:47057808-47057809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199538125	chr11:47057814-47057815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186389715	chr11:47057831-47057832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531275726	chr11:47058084-47058085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547857020	chr11:47058210-47058211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373286201	chr11:47058214-47058215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190746049	chr11:47058250-47058251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551750993	chr11:47058333-47058334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376394340	chr11:47058433-47058434	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs112048849	chr11:47058450-47058451	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs547974369	chr11:47058452-47058453	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs142588082	chr11:47058454-47058455	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs540154659	chr11:47058484-47058485	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs11500471	chr11:47058499-47058500	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs572916401	chr11:47058589-47058590	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs535886828	chr11:47058600-47058601	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555570602	chr11:47058627-47058628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572547623	chr11:47058675-47058676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12276575	chr11:47058681-47058682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184604775	chr11:47058748-47058749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189342107	chr11:47058750-47058751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs180706495	chr11:47058752-47058753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201140251	chr11:47058757-47058758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149013545	chr11:47058758-47058759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540006487	chr11:47058841-47058842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183026948	chr11:47058876-47058877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs202239221	chr11:47058943-47058944	Weak transcription	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47026800-47080200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:47048800-47058000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr11:47053400-47077600	Weak transcription	Primary T cells from cord blood	blood
4	chr11:47055200-47057600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:47055200-47062000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:47055400-47058200	Weak transcription	NHDF-Ad	bronchial
7	chr11:47055400-47058800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:47055400-47077200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:47055600-47077800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:47056200-47058400	Weak transcription	Fetal Intestine Small	intestine
11	chr11:47056400-47073600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:47056600-47057200	ZNF genes & repeats	Hela-S3	cervix
13	chr11:47056600-47073800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:47057000-47058600	Weak transcription	K562	blood
15	chr11:47057200-47074200	Weak transcription	Hela-S3	cervix
16	chr11:47058400-47058600	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr11:47058600-47058800	Enhancers	K562	blood
18	chr11:47058600-47074800	Weak transcription	Fetal Intestine Small	intestine
19	chr11:47061400-47082800	Weak transcription	Brain Angular Gyrus	brain
20	chr11:47062000-47062200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr11:47063000-47063200	Weak transcription	Pancreas	Pancrea
22	chr11:47063200-47063400	Enhancers	Pancreas	Pancrea
23	chr11:47064000-47077600	Weak transcription	Fetal Lung	lung
24	chr11:47064400-47065200	Enhancers	Fetal Stomach	stomach
25	chr11:47065000-47079000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:47065200-47073000	Weak transcription	Fetal Stomach	stomach

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