Variant report

Variant	esv275318
Chromosome Location	chr11:119775811-119785360
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:10)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

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

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

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	chr11:119776057-119776431	NONHSAT024691
4	lnc-CTD-2523D13.1.1-4	chr11:119776058-119776431	XLOC_009301
5	lnc-CTD-2523D13.1.1-4	chr11:119784004-119784117	XLOC_009301

No data

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

Extended variants
information (count: 407 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs508479	chr11:119775811-119775812	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs187614446	chr11:119775843-119775844	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs150946467	chr11:119775845-119775846	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs544949531	chr11:119775857-119775858	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs556918294	chr11:119775860-119775861	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs34976673	chr11:119775864-119775865	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs575149622	chr11:119775910-119775911	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs368861694	chr11:119775939-119775940	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs542448603	chr11:119776032-119776033	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs191848851	chr11:119776069-119776070	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs373332618	chr11:119776100-119776101	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs545048673	chr11:119776104-119776105	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
13	rs11217558	chr11:119776105-119776106	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs140831052	chr11:119776141-119776142	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs116513622	chr11:119776145-119776146	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs180951986	chr11:119776155-119776156	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs144826875	chr11:119776166-119776167	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs568827290	chr11:119776261-119776262	Enhancers Weak transcription Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs529899041	chr11:119776279-119776280	Enhancers Weak transcription Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs371891415	chr11:119776294-119776295	Enhancers Weak transcription Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs575853297	chr11:119776295-119776296	Enhancers Weak transcription Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs566547982	chr11:119776436-119776437	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs534491522	chr11:119776473-119776474	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs185133223	chr11:119776550-119776551	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs542953430	chr11:119776570-119776571	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs190288500	chr11:119776648-119776649	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs12286892	chr11:119776710-119776711	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570930292	chr11:119776716-119776717	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs566545712	chr11:119776751-119776752	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs182822909	chr11:119776754-119776755	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs368352883	chr11:119776793-119776794	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs556553246	chr11:119776799-119776800	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs528712100	chr11:119776803-119776804	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs57775146	chr11:119776845-119776846	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs553134902	chr11:119776980-119776981	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs544536760	chr11:119776992-119776993	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs554387045	chr11:119777135-119777136	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs547496273	chr11:119777164-119777165	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs559515888	chr11:119777167-119777168	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs146722747	chr11:119777168-119777169	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs187175165	chr11:119777196-119777197	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs377497242	chr11:119777212-119777213	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs115046121	chr11:119777217-119777218	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs58082398	chr11:119777218-119777219	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs532952092	chr11:119777226-119777227	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs543815664	chr11:119777240-119777241	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs562098441	chr11:119777266-119777267	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs192005528	chr11:119777280-119777281	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs61338496	chr11:119777324-119777325	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs140442167	chr11:119777370-119777371	Enhancers Weak transcription Active TSS Flanking Active TSS	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:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119763000-119780800	Weak transcription	Right Atrium	heart
2	chr11:119768000-119778000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:119772600-119779800	Enhancers	Liver	Liver
4	chr11:119773200-119776000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr11:119773600-119776000	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr11:119773600-119776200	Enhancers	Fetal Intestine Large	intestine
7	chr11:119773600-119776200	Enhancers	Fetal Intestine Small	intestine
8	chr11:119773800-119776600	Enhancers	Esophagus	oesophagus
9	chr11:119774200-119778400	Enhancers	Pancreas	Pancrea
10	chr11:119774400-119777600	Weak transcription	Brain Angular Gyrus	brain
11	chr11:119774400-119778800	Weak transcription	Brain Substantia Nigra	brain
12	chr11:119774600-119776400	Enhancers	Small Intestine	intestine
13	chr11:119774600-119776600	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr11:119774600-119776800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:119774600-119778400	Weak transcription	Brain Hippocampus Middle	brain
16	chr11:119774600-119778400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:119775000-119776800	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr11:119775200-119780200	Enhancers	Placenta	Placenta
19	chr11:119775400-119776200	Active TSS	Colonic Mucosa	Colon
20	chr11:119775400-119776600	Enhancers	Fetal Heart	heart
21	chr11:119775400-119780400	Weak transcription	Gastric	stomach
22	chr11:119775800-119776000	Enhancers	Fetal Lung	lung
23	chr11:119775800-119776200	Flanking Active TSS	Stomach Mucosa	stomach
24	chr11:119775800-119777600	Weak transcription	Spleen	Spleen
25	chr11:119775800-119777800	Weak transcription	Brain Germinal Matrix	brain
26	chr11:119775800-119781400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:119776000-119776200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:119776000-119776800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr11:119776000-119777000	Weak transcription	Fetal Lung	lung
30	chr11:119776000-119777200	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr11:119776000-119777800	Enhancers	Fetal Muscle Leg	muscle
32	chr11:119776200-119776600	Flanking Active TSS	Colonic Mucosa	Colon
33	chr11:119776200-119776600	Flanking Active TSS	Fetal Intestine Small	intestine
34	chr11:119776200-119776800	Flanking Active TSS	Fetal Intestine Large	intestine
35	chr11:119776200-119777600	Active TSS	Stomach Mucosa	stomach
36	chr11:119776200-119779200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:119776400-119778400	Active TSS	Small Intestine	intestine
38	chr11:119776600-119777200	Weak transcription	Fetal Heart	heart
39	chr11:119776600-119777200	Enhancers	Fetal Intestine Small	intestine
40	chr11:119776600-119777600	Weak transcription	Esophagus	oesophagus
41	chr11:119776600-119777600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:119776600-119778800	Active TSS	Colonic Mucosa	Colon
43	chr11:119776800-119777000	Enhancers	Duodenum Mucosa	Duodenum
44	chr11:119776800-119777000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr11:119776800-119778200	Enhancers	Fetal Intestine Large	intestine
46	chr11:119776800-119780000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:119777000-119779000	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr11:119777000-119779000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr11:119777000-119779600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr11:119777000-119779800	Enhancers	Fetal Lung	lung

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