Variant report

Variant	nsv1051760
Chromosome Location	chr11:119770181-119789683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:119772201..119772871-chr11:119780550..119781321,2	MCF-7	breast:
2	chr11:119769514..119772014-chr11:119776192..119777837,2	K562	blood:
3	chr11:119770243..119773277-chr11:119775684..119777431,3	K562	blood:
4	chr11:119768971..119769563-chr11:119780728..119781328,2	MCF-7	breast:
5	chr11:119776418..119778910-chr11:119779204..119783369,3	MCF-7	breast:
6	chr11:119779711..119781214-chr11:119976355..119978913,2	MCF-7	breast:
7	chr11:119772072..119774350-chr11:119798374..119800942,2	K562	blood:
8	chr11:119772201..119772871-chr11:119780550..119781321,2	MCF-7	breast:
9	chr11:119770243..119773277-chr11:119775684..119777431,3	K562	blood:
10	chr11:119763412..119765183-chr11:119776364..119779168,2	MCF-7	breast:
11	chr11:119772077..119772829-chr11:119780569..119781348,2	MCF-7	breast:
12	chr11:119780442..119780996-chr11:119791881..119792444,2	MCF-7	breast:
13	chr11:119757931..119760611-chr11:119769070..119771713,2	K562	blood:
14	chr11:119769514..119772014-chr11:119776192..119777837,2	K562	blood:
15	chr11:119772077..119772829-chr11:119780569..119781348,2	MCF-7	breast:
16	chr11:119776418..119778910-chr11:119779204..119783369,3	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2523D13.1.1-4	chr11:119784003-119784117	NONHSAT024691
2	lnc-CTD-2523D13.1.1-4	chr11:119776058-119776431	XLOC_009301
3	lnc-CTD-2523D13.1.1-4	chr11:119784004-119784117	XLOC_009301
4	lnc-CTD-2523D13.1.1-4	chr11:119776057-119776431	NONHSAT024691
5	lnc-CTD-2523D13.1.1-4	chr11:119784004-119784405	XLOC_009301

No data

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

Extended variants
information (count: 796 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:796 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57300665	chr11:119770221-119770222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536193887	chr11:119770229-119770230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117040360	chr11:119770241-119770242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375482153	chr11:119770266-119770267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566363936	chr11:119770331-119770332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113256653	chr11:119770406-119770407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369888778	chr11:119770428-119770429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570932287	chr11:119770459-119770460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529301838	chr11:119770521-119770522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537904013	chr11:119770541-119770542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529430867	chr11:119770561-119770562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372840036	chr11:119770579-119770580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550708362	chr11:119770603-119770604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574873554	chr11:119770606-119770607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147736854	chr11:119770614-119770615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140308653	chr11:119770636-119770637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs660634	chr11:119770694-119770695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs144155208	chr11:119770738-119770739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147771427	chr11:119770764-119770765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532237836	chr11:119770769-119770770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543970287	chr11:119770812-119770813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs386758096	chr11:119770821-119770822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562185000	chr11:119770854-119770855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75420690	chr11:119770886-119770887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529626949	chr11:119770920-119770921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542467	chr11:119770931-119770932	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs191138955	chr11:119770966-119770967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527550278	chr11:119771031-119771032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111805370	chr11:119771050-119771051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551520844	chr11:119771113-119771114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141261042	chr11:119771148-119771149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569922125	chr11:119771169-119771170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17123457	chr11:119771171-119771172	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs534056004	chr11:119771179-119771180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537518401	chr11:119771180-119771181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150317084	chr11:119771206-119771207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114357993	chr11:119771227-119771228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535876273	chr11:119771242-119771243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371243066	chr11:119771251-119771252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34705082	chr11:119771252-119771253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs66994113	chr11:119771253-119771254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145011466	chr11:119771267-119771268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535462129	chr11:119771280-119771281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572709019	chr11:119771305-119771306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554105579	chr11:119771309-119771310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558378645	chr11:119771311-119771312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs61899017	chr11:119771321-119771322	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs182515124	chr11:119771398-119771399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371515827	chr11:119771413-119771414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529706160	chr11:119771434-119771435	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:242 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119763000-119780800	Weak transcription	Right Atrium	heart
2	chr11:119765800-119773800	Weak transcription	Esophagus	oesophagus
3	chr11:119767800-119770800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:119768000-119778000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:119768400-119772200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:119768600-119772200	Weak transcription	Fetal Intestine Small	intestine
7	chr11:119768600-119773200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:119768800-119772000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:119768800-119773800	Weak transcription	Placenta	Placenta
10	chr11:119769200-119772000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:119769800-119770800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:119770800-119771000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr11:119770800-119771200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr11:119770800-119771400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr11:119772000-119772200	Enhancers	Stomach Smooth Muscle	stomach
16	chr11:119772000-119773000	Enhancers	Pancreas	Pancrea
17	chr11:119772000-119773200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:119772000-119773200	Enhancers	Fetal Intestine Large	intestine
19	chr11:119772200-119772600	Enhancers	Duodenum Mucosa	Duodenum
20	chr11:119772200-119773000	Enhancers	Fetal Intestine Small	intestine
21	chr11:119772600-119772800	Enhancers	Brain Germinal Matrix	brain
22	chr11:119772600-119773000	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr11:119772600-119775800	Enhancers	Stomach Mucosa	stomach
24	chr11:119772600-119779800	Enhancers	Liver	Liver
25	chr11:119772800-119773000	Enhancers	Gastric	stomach
26	chr11:119772800-119774400	Weak transcription	Brain Germinal Matrix	brain
27	chr11:119773000-119773600	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr11:119773000-119773600	Weak transcription	Gastric	stomach
29	chr11:119773000-119773800	Active TSS	Duodenum Mucosa	Duodenum
30	chr11:119773000-119774200	Weak transcription	Pancreas	Pancrea
31	chr11:119773200-119773600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:119773200-119773600	Flanking Active TSS	Fetal Intestine Large	intestine
33	chr11:119773200-119773600	Active TSS	K562	blood
34	chr11:119773200-119774600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:119773200-119776000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr11:119773400-119774400	Enhancers	Brain Angular Gyrus	brain
37	chr11:119773600-119774400	Enhancers	Brain Substantia Nigra	brain
38	chr11:119773600-119775400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:119773600-119775400	Enhancers	Gastric	stomach
40	chr11:119773600-119776000	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr11:119773600-119776200	Enhancers	Fetal Intestine Large	intestine
42	chr11:119773600-119776200	Enhancers	Fetal Intestine Small	intestine
43	chr11:119773800-119774000	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr11:119773800-119774000	Enhancers	Placenta	Placenta
45	chr11:119773800-119774000	Enhancers	Fetal Thymus	thymus
46	chr11:119773800-119774200	Enhancers	Brain Anterior Caudate	brain
47	chr11:119773800-119774200	Enhancers	Fetal Heart	heart
48	chr11:119773800-119774600	Enhancers	Brain Hippocampus Middle	brain
49	chr11:119773800-119775000	Enhancers	Brain Cingulate Gyrus	brain
50	chr11:119773800-119776600	Enhancers	Esophagus	oesophagus

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