Variant report

Variant	esv3470718
Chromosome Location	chr11:63568182-63569442
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	SP1	chr11:63568294-63568372	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63568859..63571826-chr11:63579605..63584324,5	K562	blood:
2	chr11:63533402..63535390-chr11:63566674..63568778,2	MCF-7	breast:
3	chr11:63568932..63571893-chr11:63593228..63594762,2	MCF-7	breast:
4	chr11:63535611..63537592-chr11:63569044..63572004,3	MCF-7	breast:

Variant related genes	Relation type
RN7SL596P	TF binding region
ENSG00000168005	chromatin interactions
ENSG00000188070	chromatin interactions
ENSG00000255651	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563156501	chr11:63568195-63568196	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs374525644	chr11:63568199-63568200	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs525926	chr11:63568208-63568209	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs147553906	chr11:63568251-63568252	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs571112651	chr11:63568304-63568305	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs529039030	chr11:63568315-63568316	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs61886075	chr11:63568355-63568356	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs183398533	chr11:63568363-63568364	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs536022465	chr11:63568374-63568375	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs186574917	chr11:63568410-63568411	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs565397881	chr11:63568437-63568438	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs538517583	chr11:63568442-63568443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558817883	chr11:63568446-63568447	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs577956293	chr11:63568473-63568474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs568705887	chr11:63568474-63568475	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs534634218	chr11:63568510-63568511	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs201676803	chr11:63568544-63568545	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs371308991	chr11:63568546-63568547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs368281561	chr11:63568566-63568567	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs560555127	chr11:63568598-63568599	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs574215808	chr11:63568612-63568613	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571131505	chr11:63568641-63568642	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs543167542	chr11:63568659-63568660	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs563040238	chr11:63568719-63568720	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs531939688	chr11:63568732-63568733	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12799231	chr11:63568768-63568769	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs142210472	chr11:63568827-63568828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532716969	chr11:63568843-63568844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151208744	chr11:63568869-63568870	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs191364151	chr11:63568878-63568879	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs576120762	chr11:63568934-63568935	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs183109279	chr11:63568941-63568942	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs187792354	chr11:63568954-63568955	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs535914812	chr11:63568961-63568962	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs549481210	chr11:63569010-63569011	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs140287092	chr11:63569024-63569025	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs74986010	chr11:63569130-63569131	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs541957330	chr11:63569142-63569143	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs555714255	chr11:63569162-63569163	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs373680096	chr11:63569179-63569180	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs554182968	chr11:63569185-63569186	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs572322215	chr11:63569214-63569215	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs541431512	chr11:63569216-63569217	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs193017180	chr11:63569235-63569236	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs577363551	chr11:63569247-63569248	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs556298	chr11:63569248-63569249	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs543106954	chr11:63569263-63569264	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs368798091	chr11:63569264-63569265	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs185134370	chr11:63569273-63569274	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs551203821	chr11:63569295-63569296	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	22522925	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63565000-63570200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:63565000-63573800	Weak transcription	Right Atrium	heart
3	chr11:63567400-63568200	Enhancers	Brain Germinal Matrix	brain
4	chr11:63567600-63568600	Weak transcription	Hela-S3	cervix
5	chr11:63567600-63580000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:63568200-63570400	Weak transcription	Brain Germinal Matrix	brain
7	chr11:63568600-63569800	Enhancers	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links