Variant report

Variant	esv3348842
Chromosome Location	chr11:119808427-119809271
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	chr11:119808866..119811308-chr11:119828308..119830735,2	K562	blood:
2	chr11:119802732..119804504-chr11:119807076..119809462,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2523D13.1.1-5	chr11:119808788-119808868	NONHSAT024693
2	lnc-CTD-2523D13.1.1-5	chr11:119808789-119808868	XLOC_009302

Extended variants
information (count: 43 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143294852	chr11:119808481-119808482	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs573353936	chr11:119808492-119808493	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540667494	chr11:119808511-119808512	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs2006623	chr11:119808535-119808536	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs114590838	chr11:119808574-119808575	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs183090513	chr11:119808594-119808595	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs67639605	chr11:119808622-119808623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577335612	chr11:119808628-119808629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528526568	chr11:119808629-119808630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530270564	chr11:119808662-119808663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548370268	chr11:119808666-119808667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114984051	chr11:119808667-119808668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1789793	chr11:119808725-119808726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187630432	chr11:119808739-119808740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192067298	chr11:119808768-119808769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543002645	chr11:119808783-119808784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs56683142	chr11:119808787-119808788	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs60280067	chr11:119808789-119808790	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs536480574	chr11:119808803-119808804	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs182349202	chr11:119808855-119808856	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs10892499	chr11:119808864-119808865	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs528523675	chr11:119808865-119808866	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs534312927	chr11:119808868-119808869	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs559042760	chr11:119808952-119808953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116514840	chr11:119808953-119808954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs880004	chr11:119808956-119808957	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs185869757	chr11:119808967-119808968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375792355	chr11:119809035-119809036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575053815	chr11:119809048-119809049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542051466	chr11:119809109-119809110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200688191	chr11:119809117-119809118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188732211	chr11:119809125-119809126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112285704	chr11:119809127-119809128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs202033139	chr11:119809132-119809133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371651679	chr11:119809139-119809140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373488643	chr11:119809146-119809147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375731774	chr11:119809147-119809148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199975151	chr11:119809148-119809149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201092536	chr11:119809149-119809150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs202171416	chr11:119809150-119809151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368675745	chr11:119809183-119809184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546298422	chr11:119809190-119809191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11217587	chr11:119809217-119809218	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:118)

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

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119803000-119809000	Enhancers	Fetal Muscle Leg	muscle
2	chr11:119805400-119809200	Enhancers	Brain Hippocampus Middle	brain
3	chr11:119805600-119809000	Enhancers	Brain Angular Gyrus	brain
4	chr11:119805600-119809800	Enhancers	Brain Cingulate Gyrus	brain
5	chr11:119805800-119809000	Enhancers	Brain Substantia Nigra	brain
6	chr11:119806600-119809400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:119807200-119809600	Weak transcription	Fetal Heart	heart
8	chr11:119807400-119809200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:119807400-119812000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:119807600-119808800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:119808200-119808600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
12	chr11:119808400-119808600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr11:119808400-119809800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr11:119808600-119809000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr11:119808600-119809000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr11:119808600-119809400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr11:119808800-119809600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr11:119809000-119811600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:119809200-119809400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:119809200-119809600	Weak transcription	Brain Hippocampus Middle	brain

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