Variant report

Variant	esv3324251
Chromosome Location	chr11:72961129-72963877
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 120 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568871115	chr11:72961159-72961160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs386754912	chr11:72961171-72961172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35203103	chr11:72961200-72961201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397741857	chr11:72961202-72961203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545959553	chr11:72961246-72961247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113444544	chr11:72961270-72961271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183483576	chr11:72961298-72961299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373035758	chr11:72961363-72961364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112455214	chr11:72961385-72961386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74800477	chr11:72961395-72961396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554080617	chr11:72961413-72961414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577225928	chr11:72961482-72961483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539776586	chr11:72961504-72961505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374332875	chr11:72961511-72961512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144501544	chr11:72961523-72961524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556262057	chr11:72961541-72961542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78266702	chr11:72961543-72961544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541946706	chr11:72961566-72961567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533485658	chr11:72961577-72961578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs59862327	chr11:72961578-72961579	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs572255775	chr11:72961611-72961612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147367362	chr11:72961669-72961670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562444331	chr11:72961691-72961692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373772271	chr11:72961708-72961709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555365793	chr11:72961710-72961711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564408452	chr11:72961715-72961716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367657212	chr11:72961736-72961737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34635885	chr11:72961741-72961742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550090633	chr11:72961742-72961743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143508787	chr11:72961752-72961753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531378723	chr11:72961754-72961755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574539689	chr11:72961770-72961771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529264487	chr11:72961787-72961788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372008544	chr11:72961813-72961814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547937964	chr11:72961830-72961831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374831731	chr11:72961851-72961852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568151226	chr11:72961856-72961857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533940612	chr11:72961874-72961875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372361663	chr11:72961909-72961910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570686389	chr11:72961947-72961948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs60610185	chr11:72961980-72961981	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs556460014	chr11:72962035-72962036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74645579	chr11:72962091-72962092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188821756	chr11:72962109-72962110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192260137	chr11:72962142-72962143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182387914	chr11:72962151-72962152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111219056	chr11:72962272-72962273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186725596	chr11:72962355-72962356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567243836	chr11:72962418-72962419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576316034	chr11:72962433-72962434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
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
Hodgkin''s lymphoma	17606441	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
Lung cancer	18438408	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
Lung cancer	19153074	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72953000-72962000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:72954000-72963600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:72954200-72964000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:72954200-72968600	Weak transcription	Left Ventricle	heart
5	chr11:72954400-72967000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:72955800-72962000	Enhancers	Placenta	Placenta
7	chr11:72956000-72961200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr11:72956200-72963800	Weak transcription	Fetal Heart	heart
9	chr11:72956600-72968600	Weak transcription	Lung	lung
10	chr11:72959600-72961800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:72959800-72961200	Enhancers	A549	lung
12	chr11:72960000-72962000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:72960400-72961200	Enhancers	HMEC	breast
14	chr11:72960400-72961800	Enhancers	GM12878-XiMat	blood
15	chr11:72960800-72961800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr11:72960800-72975400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:72961000-72961200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr11:72961000-72961400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:72961200-72963600	Weak transcription	A549	lung
20	chr11:72961200-72968400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr11:72961800-72963600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:72962000-72966800	Weak transcription	Placenta	Placenta
23	chr11:72963600-72963800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr11:72963600-72964000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:72963600-72964200	Enhancers	A549	lung
26	chr11:72963800-72964000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:72963800-72964200	Enhancers	Fetal Heart	heart

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