Variant report

Variant	esv2760266
Chromosome Location	chr11:71282968-71288551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71284028..71285602-chr11:71289697..71292475,2	MCF-7	breast:
2	chr11:71282448..71285837-chr11:71286010..71289392,3	MCF-7	breast:
3	chr11:71282448..71285837-chr11:71286010..71289392,3	MCF-7	breast:
4	chr11:71158604..71160379-chr11:71280505..71283180,2	MCF-7	breast:
5	chr11:71198072..71200599-chr11:71283906..71285709,2	MCF-7	breast:
6	chr11:71162651..71164294-chr11:71282060..71284159,2	K562	blood:

Variant related genes	Relation type
ENSG00000172890	chromatin interactions
ENSG00000254682	chromatin interactions
ENSG00000249387	chromatin interactions
ENSG00000172893	chromatin interactions

Extended variants
information (count: 262 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140381273	chr11:71282970-71282971	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs190683990	chr11:71282972-71282973	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs12286373	chr11:71283013-71283014	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs372783778	chr11:71283020-71283021	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs554765062	chr11:71283023-71283024	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs561132110	chr11:71283028-71283029	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs139885266	chr11:71283057-71283058	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs574618806	chr11:71283097-71283098	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs147355179	chr11:71283113-71283114	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs112769627	chr11:71283117-71283118	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs149284363	chr11:71283163-71283164	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs185426768	chr11:71283188-71283189	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs538290622	chr11:71283204-71283205	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs376009390	chr11:71283289-71283290	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs550629581	chr11:71283327-71283328	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs190285798	chr11:71283345-71283346	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs111282476	chr11:71283373-71283374	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs555553423	chr11:71283378-71283379	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs144438777	chr11:71283379-71283380	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs34620099	chr11:71283411-71283412	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs534984373	chr11:71283429-71283430	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs549040182	chr11:71283456-71283457	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs373730433	chr11:71283500-71283501	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs376425498	chr11:71283509-71283510	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs58658505	chr11:71283510-71283511	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs545098339	chr11:71283515-71283516	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs111711183	chr11:71283592-71283593	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs563771597	chr11:71283629-71283630	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs575823726	chr11:71283712-71283713	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs542802484	chr11:71283724-71283725	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs541823544	chr11:71283728-71283729	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs561065124	chr11:71283813-71283814	Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs182519067	chr11:71283831-71283832	Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs546858759	chr11:71283836-71283837	Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs567768200	chr11:71283865-71283866	Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs532104796	chr11:71283927-71283928	Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs79741687	chr11:71283943-71283944	Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs568573955	chr11:71283990-71283991	Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs529745848	chr11:71284017-71284018	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs147190690	chr11:71284043-71284044	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs371132108	chr11:71284057-71284058	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs547930439	chr11:71284058-71284059	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs567509142	chr11:71284065-71284066	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs534920261	chr11:71284092-71284093	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs142513474	chr11:71284102-71284103	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs146628039	chr11:71284104-71284105	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs4457774	chr11:71284136-71284137	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs113521093	chr11:71284160-71284161	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs557086201	chr11:71284187-71284188	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs369984142	chr11:71284197-71284198	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	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
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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71277600-71290400	Weak transcription	Right Atrium	heart
2	chr11:71282000-71285000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:71282000-71290400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:71282000-71290600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:71282600-71290400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:71282800-71283200	Enhancers	Fetal Intestine Large	intestine
7	chr11:71282800-71283200	Enhancers	Fetal Intestine Small	intestine
8	chr11:71282800-71283600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr11:71283000-71283200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr11:71283400-71285200	Weak transcription	Fetal Kidney	kidney
11	chr11:71283800-71284000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:71283800-71284000	Bivalent Enhancer	HepG2	liver
13	chr11:71285000-71285600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:71285600-71291400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:71286000-71288600	Weak transcription	Fetal Kidney	kidney
16	chr11:71287000-71287600	Enhancers	Brain Germinal Matrix	brain

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