Variant report

Variant	esv3496913
Chromosome Location	chr11:119950157-119954996
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 294 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:294 , 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	rs571620922	chr11:119950183-119950184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548128493	chr11:119950196-119950197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566745889	chr11:119950197-119950198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533873217	chr11:119950221-119950222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs3887268	chr11:119950310-119950311	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs646261	chr11:119950347-119950348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576447214	chr11:119950369-119950370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537507211	chr11:119950380-119950381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555844146	chr11:119950396-119950397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141877438	chr11:119950404-119950405	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542392444	chr11:119950416-119950417	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560550947	chr11:119950421-119950422	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572670423	chr11:119950431-119950432	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533337769	chr11:119950471-119950472	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564430186	chr11:119950489-119950490	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531737971	chr11:119950544-119950545	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7925945	chr11:119950547-119950548	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368448683	chr11:119950574-119950575	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550242731	chr11:119950575-119950576	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139389948	chr11:119950596-119950597	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs386375075	chr11:119950598-119950599	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs58953711	chr11:119950603-119950604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12289160	chr11:119950604-119950605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562204897	chr11:119950629-119950630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529406017	chr11:119950634-119950635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548345379	chr11:119950643-119950644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566573866	chr11:119950655-119950656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150667639	chr11:119950671-119950672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552063948	chr11:119950693-119950694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371582660	chr11:119950710-119950711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570067454	chr11:119950712-119950713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs117040938	chr11:119950717-119950718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555774566	chr11:119950726-119950727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140107844	chr11:119950729-119950730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536535825	chr11:119950731-119950732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535218562	chr11:119950751-119950752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12276260	chr11:119950798-119950799	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs143786824	chr11:119950803-119950804	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs546470627	chr11:119950815-119950816	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs558484016	chr11:119950854-119950855	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs191968259	chr11:119950884-119950885	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs371703859	chr11:119950885-119950886	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs10892531	chr11:119950934-119950935	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs543825318	chr11:119950944-119950945	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs78153073	chr11:119950951-119950952	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs182916496	chr11:119950967-119950968	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs558747590	chr11:119950980-119950981	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs541183224	chr11:119951038-119951039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560255213	chr11:119951050-119951051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527486522	chr11:119951075-119951076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Emanuel syndrome	21549014	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Ovarian neoplasms	16753589	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Retinoblastoma	22278416	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Squamous cell cancer	20885788	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Neurocytoma	17123091	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Central neurocytomas	17123091	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Acute myeloid leukemia	19651601	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	20409316	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119938800-119951600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:119945600-119950200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:119947600-119950800	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr11:119948200-119950400	Enhancers	Brain Substantia Nigra	brain
5	chr11:119948200-119950800	Enhancers	Brain Hippocampus Middle	brain
6	chr11:119948200-119951000	Enhancers	Fetal Muscle Leg	muscle
7	chr11:119949000-119950200	Enhancers	Brain Angular Gyrus	brain
8	chr11:119949000-119950200	Enhancers	Brain Anterior Caudate	brain
9	chr11:119949000-119950400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr11:119949200-119950800	Enhancers	Esophagus	oesophagus
11	chr11:119949400-119951200	Enhancers	Brain Cingulate Gyrus	brain
12	chr11:119950000-119950200	Enhancers	Brain Germinal Matrix	brain
13	chr11:119950000-119950600	Enhancers	Left Ventricle	heart
14	chr11:119950200-119950800	Enhancers	Right Ventricle	heart
15	chr11:119950200-119951800	Enhancers	Fetal Muscle Trunk	muscle
16	chr11:119950400-119950600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
17	chr11:119950400-119956400	Weak transcription	Brain Substantia Nigra	brain
18	chr11:119950600-119951200	Enhancers	Liver	Liver
19	chr11:119950800-119951000	Bivalent Enhancer	Placenta	Placenta
20	chr11:119950800-119954600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:119950800-119956400	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:119951200-119956400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr11:119951600-119953200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:119951800-119953400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:119953400-119954400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:119954400-119955000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:119954600-119955000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
28	chr11:119954600-119955000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr11:119954800-119955000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
30	chr11:119954800-119955200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:119954800-119955200	Bivalent Enhancer	Adipose Nuclei	Adipose

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