Variant report

Variant	esv1818721
Chromosome Location	chr11:119782056-119785065
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119776418..119778910-chr11:119779204..119783369,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2523D13.1.1-4	chr11:119784004-119784405	XLOC_009301
2	lnc-CTD-2523D13.1.1-4	chr11:119784003-119784117	NONHSAT024691
3	lnc-CTD-2523D13.1.1-4	chr11:119784004-119784117	XLOC_009301

Variant related genes	Relation type
DCX	miRNA target sites
VAMP3	miRNA target sites

Extended variants
information (count: 135 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10790353	chr11:119782056-119782057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147539120	chr11:119782078-119782079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564537093	chr11:119782097-119782098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532313724	chr11:119782115-119782116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550446057	chr11:119782189-119782190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185327847	chr11:119782190-119782191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148178235	chr11:119782240-119782241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540103	chr11:119782250-119782251	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs116481069	chr11:119782251-119782252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534281849	chr11:119782255-119782256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34749076	chr11:119782276-119782277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs397750398	chr11:119782277-119782278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190158415	chr11:119782293-119782294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570841050	chr11:119782297-119782298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142007957	chr11:119782307-119782308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556600396	chr11:119782308-119782309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150517217	chr11:119782336-119782337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376112802	chr11:119782356-119782357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192153047	chr11:119782367-119782368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555142512	chr11:119782389-119782390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139454617	chr11:119782413-119782414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143285164	chr11:119782429-119782430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146204458	chr11:119782437-119782438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139307260	chr11:119782438-119782439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576557821	chr11:119782459-119782460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543821105	chr11:119782462-119782463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562658322	chr11:119782486-119782487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185033750	chr11:119782513-119782514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113307529	chr11:119782529-119782530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541703372	chr11:119782542-119782543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112031623	chr11:119782551-119782552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536613	chr11:119782588-119782589	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs575211734	chr11:119782603-119782604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527817731	chr11:119782605-119782606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552678891	chr11:119782627-119782628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570930319	chr11:119782669-119782670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531752399	chr11:119782676-119782677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144074679	chr11:119782700-119782701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11217568	chr11:119782724-119782725	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs536144580	chr11:119782739-119782740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554112243	chr11:119782789-119782790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116226222	chr11:119782839-119782840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34831227	chr11:119782902-119782903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs397749295	chr11:119782905-119782906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs397954471	chr11:119782906-119782907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533670738	chr11:119782917-119782918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149123697	chr11:119782933-119782934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189417146	chr11:119782947-119782948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180938718	chr11:119783009-119783010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556079583	chr11:119783030-119783031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119777200-119782600	Enhancers	Fetal Heart	heart
2	chr11:119777600-119783000	Enhancers	Brain Angular Gyrus	brain
3	chr11:119778200-119783200	Enhancers	Brain Cingulate Gyrus	brain
4	chr11:119778400-119783000	Enhancers	Brain Hippocampus Middle	brain
5	chr11:119778400-119783000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:119778400-119783200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr11:119778600-119782200	Enhancers	Fetal Intestine Large	intestine
8	chr11:119779600-119782800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:119779800-119784600	Weak transcription	Esophagus	oesophagus
10	chr11:119780000-119786800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:119780000-119792000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:119780400-119782200	Enhancers	Gastric	stomach
13	chr11:119780400-119782800	Enhancers	Left Ventricle	heart
14	chr11:119781800-119783000	Weak transcription	Brain Germinal Matrix	brain
15	chr11:119781800-119784200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:119781800-119786000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:119781800-119786600	Weak transcription	Colonic Mucosa	Colon
18	chr11:119781800-119789000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:119781800-119801800	Weak transcription	Stomach Mucosa	stomach
20	chr11:119782000-119782400	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:119782000-119784000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:119782000-119784800	Weak transcription	Fetal Intestine Small	intestine
23	chr11:119782200-119782600	Weak transcription	Gastric	stomach
24	chr11:119782400-119783400	Enhancers	Fetal Muscle Leg	muscle
25	chr11:119782600-119782800	Enhancers	Gastric	stomach
26	chr11:119782600-119787800	Weak transcription	Fetal Heart	heart
27	chr11:119782800-119783200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:119782800-119783400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:119782800-119800600	Weak transcription	Gastric	stomach
30	chr11:119783000-119783200	Enhancers	Brain Germinal Matrix	brain
31	chr11:119783000-119789200	Weak transcription	Brain Angular Gyrus	brain
32	chr11:119783000-119789800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:119783400-119789000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:119784000-119784800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr11:119784200-119785600	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:119784800-119785000	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr11:119784800-119785200	Weak transcription	Duodenum Mucosa	Duodenum

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