Variant report

Variant	nsv1044698
Chromosome Location	chr11:119767614-119789683
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:18)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:119776418..119778910-chr11:119779204..119783369,3	MCF-7	breast:
2	chr11:119768971..119769563-chr11:119780728..119781328,2	MCF-7	breast:
3	chr11:119772201..119772871-chr11:119780550..119781321,2	MCF-7	breast:
4	chr11:119770243..119773277-chr11:119775684..119777431,3	K562	blood:
5	chr11:119769514..119772014-chr11:119776192..119777837,2	K562	blood:
6	chr11:119772201..119772871-chr11:119780550..119781321,2	MCF-7	breast:
7	chr11:119772077..119772829-chr11:119780569..119781348,2	MCF-7	breast:
8	chr11:119772077..119772829-chr11:119780569..119781348,2	MCF-7	breast:
9	chr11:119768971..119769563-chr11:119780728..119781328,2	MCF-7	breast:
10	chr11:119761258..119764589-chr11:119765739..119768852,3	MCF-7	breast:
11	chr11:119772072..119774350-chr11:119798374..119800942,2	K562	blood:
12	chr11:119769514..119772014-chr11:119776192..119777837,2	K562	blood:
13	chr11:119770243..119773277-chr11:119775684..119777431,3	K562	blood:
14	chr11:119757931..119760611-chr11:119769070..119771713,2	K562	blood:
15	chr11:119763412..119765183-chr11:119776364..119779168,2	MCF-7	breast:
16	chr11:119776418..119778910-chr11:119779204..119783369,3	MCF-7	breast:
17	chr11:119780442..119780996-chr11:119791881..119792444,2	MCF-7	breast:
18	chr11:119779711..119781214-chr11:119976355..119978913,2	MCF-7	breast:

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

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

No data

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

Extended variants
information (count: 872 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:872 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs504485	chr11:119767614-119767615	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536786155	chr11:119767701-119767702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146092591	chr11:119767715-119767716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567298181	chr11:119767718-119767719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534622820	chr11:119767724-119767725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552968792	chr11:119767732-119767733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140101757	chr11:119767741-119767742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545239801	chr11:119767809-119767810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563372	chr11:119767864-119767865	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs575389530	chr11:119767865-119767866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185598344	chr11:119767929-119767930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116034193	chr11:119767944-119767945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528538581	chr11:119767995-119767996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548088029	chr11:119768019-119768020	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs73010607	chr11:119768020-119768021	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs11217556	chr11:119768054-119768055	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs11828081	chr11:119768086-119768087	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551253806	chr11:119768089-119768090	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs73579052	chr11:119768142-119768143	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs530294789	chr11:119768150-119768151	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs188399819	chr11:119768202-119768203	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs567383659	chr11:119768309-119768310	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs534663237	chr11:119768337-119768338	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs557809397	chr11:119768338-119768339	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs553005619	chr11:119768358-119768359	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs571215906	chr11:119768373-119768374	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs573052931	chr11:119768475-119768476	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs557209127	chr11:119768511-119768512	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs371643894	chr11:119768598-119768599	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs368020989	chr11:119768621-119768622	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs116826828	chr11:119768683-119768684	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs73010609	chr11:119768716-119768717	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs200163718	chr11:119768795-119768796	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs386758095	chr11:119768853-119768854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs56816645	chr11:119768855-119768856	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs555843093	chr11:119768877-119768878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181602543	chr11:119768892-119768893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577160538	chr11:119768903-119768904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544606699	chr11:119768922-119768923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563216724	chr11:119768991-119768992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574396927	chr11:119769024-119769025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370128210	chr11:119769072-119769073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371463573	chr11:119769141-119769142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34855898	chr11:119769167-119769168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548807465	chr11:119769177-119769178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560619151	chr11:119769250-119769251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544355368	chr11:119769261-119769262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562552507	chr11:119769273-119769274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546663444	chr11:119769292-119769293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185673172	chr11:119769297-119769298	Weak transcription Enhancers	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:272 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119747200-119768200	Weak transcription	Fetal Intestine Small	intestine
2	chr11:119763000-119767800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:119763000-119768400	Weak transcription	Left Ventricle	heart
4	chr11:119763000-119780800	Weak transcription	Right Atrium	heart
5	chr11:119764000-119768000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:119764600-119768000	Weak transcription	Fetal Heart	heart
7	chr11:119765800-119768600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:119765800-119773800	Weak transcription	Esophagus	oesophagus
9	chr11:119766400-119768200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:119766400-119768200	Weak transcription	Placenta	Placenta
11	chr11:119767200-119768000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:119767400-119767800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr11:119767400-119768600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:119767400-119769000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr11:119767600-119769200	Enhancers	Stomach Smooth Muscle	stomach
16	chr11:119767800-119768600	Enhancers	Aorta	Aorta
17	chr11:119767800-119768800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:119767800-119770800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:119768000-119768600	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr11:119768000-119768800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:119768000-119768800	Bivalent Enhancer	Fetal Stomach	stomach
22	chr11:119768000-119769600	Enhancers	Fetal Heart	heart
23	chr11:119768000-119778000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:119768200-119768600	Enhancers	Fetal Intestine Small	intestine
25	chr11:119768200-119768600	Enhancers	Fetal Muscle Trunk	muscle
26	chr11:119768200-119768800	Enhancers	Placenta	Placenta
27	chr11:119768400-119768600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr11:119768400-119768800	Enhancers	Left Ventricle	heart
29	chr11:119768400-119768800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr11:119768400-119772200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr11:119768600-119768800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr11:119768600-119772200	Weak transcription	Fetal Intestine Small	intestine
33	chr11:119768600-119773200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:119768800-119772000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:119768800-119773800	Weak transcription	Placenta	Placenta
36	chr11:119769000-119769200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:119769000-119769800	Enhancers	H9 Cell Line	embryonic stem cell
38	chr11:119769200-119769600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr11:119769200-119772000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr11:119769600-119770000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr11:119769800-119770800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr11:119770800-119771000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr11:119770800-119771200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr11:119770800-119771400	Enhancers	H9 Cell Line	embryonic stem cell
45	chr11:119772000-119772200	Enhancers	Stomach Smooth Muscle	stomach
46	chr11:119772000-119773000	Enhancers	Pancreas	Pancrea
47	chr11:119772000-119773200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:119772000-119773200	Enhancers	Fetal Intestine Large	intestine
49	chr11:119772200-119772600	Enhancers	Duodenum Mucosa	Duodenum
50	chr11:119772200-119773000	Enhancers	Fetal Intestine Small	intestine

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