Variant report

Variant	esv3433255
Chromosome Location	chr11:5158661-5163935
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	chr11:5158926-5159114	HepG2	liver:	n/a	chr11:5158987-5158998
2	CTCF	chr11:5160300-5160421	Lung_OC	lung:	n/a	n/a
3	EP300	chr11:5162567-5162645	K562	blood:	n/a	n/a
4	IRF1	chr11:5161870-5161871	K562	blood:	n/a	n/a
5	MAFK	chr11:5159882-5159998	HepG2	liver:	n/a	chr11:5159957-5159968 chr11:5159957-5159968 chr11:5159956-5159967
6	POLR2A	chr11:5161783-5161795	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr11:5161898-5162132	MCF10A-Er-Src	breast:	n/a	n/a
8	RFX5	chr11:5160511-5160521	K562	blood:	n/a	n/a
9	STAT3	chr11:5160728-5160867	MCF10A-Er-Src	breast:	n/a	n/a
10	TAL1	chr11:5162511-5162655	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:5159254-5162227..11:5469844-5475173	H1-hESC	embryonic stem cell:	embryo
2	11:5154908-5159254..11:5407716-5412355	GM12878	blood:
3	chr11:5160114..5162229-chr11:5171170..5172711,2	K562	blood:
4	chr11:5163035..5164810-chr11:5166036..5168389,2	K562	blood:
5	11:5154908-5159254..11:5721056-5732713	GM12878	blood:
6	chr11:5156441..5158243-chr11:5160175..5163398,3	K562	blood:
7	11:5159254-5162227..11:5700314-5707362	Hela-S3	cervix:
8	chr11:5163553..5165336-chr11:5177083..5178802,2	K562	blood:
9	11:5159254-5162227..11:5407716-5412355	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
OR52A5	TF binding region
ENSG00000187918	chromatin interactions
ENSG00000132274	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000184698	chromatin interactions

Extended variants
information (count: 158 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538907231	chr11:5158679-5158680	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs554020365	chr11:5158723-5158724	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs572436899	chr11:5158730-5158731	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs542586467	chr11:5158745-5158746	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs374614669	chr11:5158761-5158762	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs576421116	chr11:5158766-5158767	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs543891458	chr11:5158781-5158782	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs565284112	chr11:5158808-5158809	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs138421744	chr11:5158895-5158896	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs541262031	chr11:5158910-5158911	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs555284750	chr11:5158958-5158959	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs530037887	chr11:5158966-5158967	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs548160900	chr11:5159032-5159033	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs181547131	chr11:5159041-5159042	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs184476987	chr11:5159114-5159115	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs548382120	chr11:5159122-5159123	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs188479774	chr11:5159124-5159125	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs570479740	chr11:5159132-5159133	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs538830376	chr11:5159167-5159168	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs55857878	chr11:5159173-5159174	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs144081374	chr11:5159213-5159214	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs536560548	chr11:5159234-5159235	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs555006122	chr11:5159346-5159347	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs148663941	chr11:5159385-5159386	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs568618489	chr11:5159399-5159400	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs537079030	chr11:5159431-5159432	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs369357887	chr11:5159444-5159445	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs535434319	chr11:5159462-5159463	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs74051335	chr11:5159471-5159472	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs376567970	chr11:5159475-5159476	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs559590617	chr11:5159489-5159490	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs574744109	chr11:5159495-5159496	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs11823101	chr11:5159503-5159504	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs181281587	chr11:5159614-5159615	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs146444326	chr11:5159661-5159662	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs373514376	chr11:5159695-5159696	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs573821467	chr11:5159713-5159714	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs370910923	chr11:5159714-5159715	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs551917860	chr11:5159720-5159721	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs186655669	chr11:5159751-5159752	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs528179578	chr11:5159841-5159842	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs551232746	chr11:5159939-5159940	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs547547554	chr11:5159950-5159951	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs78238222	chr11:5159989-5159990	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs536496415	chr11:5160050-5160051	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs548842780	chr11:5160076-5160077	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs201673004	chr11:5160079-5160080	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs74051336	chr11:5160083-5160084	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs375807613	chr11:5160086-5160087	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs2472528	chr11:5160096-5160097	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5154000-5162400	Weak transcription	K562	blood
2	chr11:5156600-5159600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr11:5157600-5158800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:5158000-5159400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr11:5158200-5158800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr11:5158200-5159800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr11:5158400-5159400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr11:5158800-5159400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:5159400-5159600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr11:5159600-5159800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr11:5160000-5160600	Enhancers	Fetal Lung	lung
12	chr11:5162400-5162800	Enhancers	K562	blood
13	chr11:5163600-5164600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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