Variant report

Variant	esv33683
Chromosome Location	chr16:80325303-80334014
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DYNLRB2-5	chr16:80330180-80330542	ucscGeneNc_uc002fgs_2
2	lnc-DYNLRB2-5	chr16:80331366-80331485	ucscGeneNc_uc002fgs_2
3	lnc-DYNLRB2-5	chr16:80331572-80331684	ucscGeneNc_uc002fgs_2

Extended variants
information (count: 389 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192321338	chr16:80328203-80328204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548706537	chr16:80328210-80328211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567908125	chr16:80328219-80328220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116481159	chr16:80328258-80328259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183036241	chr16:80328273-80328274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77860463	chr16:80328292-80328293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566044234	chr16:80328306-80328307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568690334	chr16:80328308-80328309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571535168	chr16:80328309-80328310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537784225	chr16:80328331-80328332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369187813	chr16:80328347-80328348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187283187	chr16:80328385-80328386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563835704	chr16:80328396-80328397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12922310	chr16:80328401-80328402	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs571182204	chr16:80328411-80328412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs62051604	chr16:80328413-80328414	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs554673665	chr16:80328437-80328438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs199944965	chr16:80328452-80328453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12935043	chr16:80328453-80328454	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs12922433	chr16:80328456-80328457	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542683138	chr16:80328462-80328463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144182545	chr16:80328476-80328477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577880307	chr16:80328486-80328487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12922572	chr16:80328517-80328518	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs192662231	chr16:80328539-80328540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575924581	chr16:80328549-80328550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145296749	chr16:80328552-80328553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371057464	chr16:80328553-80328554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184538510	chr16:80328569-80328570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549404087	chr16:80328596-80328597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147804566	chr16:80328599-80328600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148434935	chr16:80328602-80328603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12918117	chr16:80328604-80328605	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs12935352	chr16:80328618-80328619	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs369889200	chr16:80328628-80328629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550094751	chr16:80328647-80328648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565251980	chr16:80328662-80328663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142545428	chr16:80328679-80328680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188983461	chr16:80328681-80328682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566123497	chr16:80328693-80328694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536385325	chr16:80328710-80328711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548543273	chr16:80328716-80328717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs151092137	chr16:80328725-80328726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141017952	chr16:80328766-80328767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556471409	chr16:80328787-80328788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs578001446	chr16:80328798-80328799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538797817	chr16:80328808-80328809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs578166037	chr16:80328812-80328813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572105669	chr16:80328816-80328817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542384670	chr16:80328818-80328819	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Adrenocortical carcinoma	18281524	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80328200-80329200	Enhancers	HUVEC	blood vessel
2	chr16:80329200-80330400	Weak transcription	HUVEC	blood vessel
3	chr16:80329600-80329800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:80329600-80329800	ZNF genes & repeats	HSMM	muscle
5	chr16:80329800-80332200	Weak transcription	HSMM	muscle
6	chr16:80330400-80330600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:80330600-80331200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr16:80331200-80331400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:80331200-80331400	Enhancers	Brain Germinal Matrix	brain
10	chr16:80331400-80332800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr16:80332200-80332600	Weak transcription	HUVEC	blood vessel
12	chr16:80332200-80333000	Enhancers	Stomach Smooth Muscle	stomach
13	chr16:80332200-80333000	Enhancers	NH-A	brain
14	chr16:80332200-80334600	Enhancers	Pancreas	Pancrea
15	chr16:80332200-80335000	Enhancers	NHDF-Ad	bronchial
16	chr16:80332200-80335400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr16:80332200-80335600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr16:80332200-80335800	Enhancers	HSMM	muscle
19	chr16:80332200-80336000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr16:80332400-80334000	Enhancers	Fetal Lung	lung
21	chr16:80332400-80334200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr16:80332400-80334200	Enhancers	HSMMtube	muscle
23	chr16:80332400-80334400	Enhancers	Fetal Stomach	stomach
24	chr16:80332400-80334400	Enhancers	Gastric	stomach
25	chr16:80332400-80335200	Enhancers	Osteobl	bone
26	chr16:80332600-80333000	Enhancers	Fetal Kidney	kidney
27	chr16:80332600-80334600	Enhancers	NHLF	lung
28	chr16:80332600-80335000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr16:80332600-80335600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr16:80332600-80335800	Enhancers	A549	lung
31	chr16:80332800-80334000	Enhancers	Placenta	Placenta
32	chr16:80332800-80334800	Enhancers	Aorta	Aorta
33	chr16:80332800-80334800	Enhancers	HUVEC	blood vessel
34	chr16:80332800-80335200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr16:80332800-80336000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr16:80333000-80333400	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr16:80333000-80333400	Flanking Active TSS	NH-A	brain
38	chr16:80333000-80333600	Enhancers	HepG2	liver
39	chr16:80333000-80334000	Enhancers	Brain Germinal Matrix	brain
40	chr16:80333000-80334600	Enhancers	Fetal Muscle Leg	muscle
41	chr16:80333000-80340200	Weak transcription	Fetal Kidney	kidney
42	chr16:80333200-80333400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr16:80333200-80333800	Enhancers	Stomach Mucosa	stomach
44	chr16:80333400-80333600	Enhancers	Duodenum Mucosa	Duodenum
45	chr16:80333400-80333800	Enhancers	Stomach Smooth Muscle	stomach
46	chr16:80333400-80334800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr16:80333400-80334800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr16:80333400-80335200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr16:80333400-80335200	Enhancers	HMEC	breast
50	chr16:80333400-80335600	Enhancers	NH-A	brain

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