Variant report

Variant	nsv573296
Chromosome Location	chr16:80315263-80338877
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:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80334401..80335928-chr16:80343154..80345608,2	MCF-7	breast:
2	chr10:79239960..79240960-chr16:80314989..80315547,2	MCF-7	breast:
3	chr16:80313815..80316621-chr16:80321015..80323022,2	MCF-7	breast:
4	chr16:80312419..80315004-chr16:80317152..80320675,4	MCF-7	breast:
5	chr16:80313815..80316621-chr16:80321015..80323022,2	MCF-7	breast:
6	chr16:80305510..80307730-chr16:80315261..80317218,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

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

No data

Extended variants
information (count: 1246 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1246 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10514491	chr16:80315263-80315264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192266540	chr16:80315281-80315282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542572238	chr16:80315289-80315290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9319551	chr16:80315306-80315307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs181851687	chr16:80315321-80315322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150155731	chr16:80315353-80315354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535574966	chr16:80315366-80315367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185816421	chr16:80315376-80315377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575694278	chr16:80315377-80315378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs16952746	chr16:80315381-80315382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs563711445	chr16:80315393-80315394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190175299	chr16:80315415-80315416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577167917	chr16:80315443-80315444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541318684	chr16:80315444-80315445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559277106	chr16:80315451-80315452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35791288	chr16:80315461-80315462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115294606	chr16:80315482-80315483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367843404	chr16:80315515-80315516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150179468	chr16:80315527-80315528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563073462	chr16:80315541-80315542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563501999	chr16:80315544-80315545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75678515	chr16:80315548-80315549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182437972	chr16:80315560-80315561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544828192	chr16:80315578-80315579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138639935	chr16:80315580-80315581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370358301	chr16:80315592-80315593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547317227	chr16:80315595-80315596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568552886	chr16:80315626-80315627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529526401	chr16:80315645-80315646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs939000	chr16:80315648-80315649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs149254343	chr16:80315662-80315663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371381199	chr16:80315666-80315667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558135857	chr16:80315674-80315675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566902705	chr16:80315714-80315715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534601839	chr16:80315719-80315720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146188629	chr16:80315734-80315735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574522838	chr16:80315759-80315760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs137864376	chr16:80315801-80315802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142465458	chr16:80315807-80315808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115862478	chr16:80315827-80315828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545500467	chr16:80315842-80315843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529511052	chr16:80315843-80315844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563736158	chr16:80315844-80315845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62049548	chr16:80315878-80315879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145955231	chr16:80315921-80315922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11646497	chr16:80316004-80316005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs531654727	chr16:80316006-80316007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35420706	chr16:80316096-80316097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186668593	chr16:80316120-80316121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569476230	chr16:80316144-80316145	Weak transcription	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:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80309000-80318200	Weak transcription	HSMM	muscle
2	chr16:80309600-80316800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr16:80314400-80318200	Weak transcription	HSMMtube	muscle
4	chr16:80316200-80317800	Weak transcription	Osteobl	bone
5	chr16:80316800-80319000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:80316800-80319800	Enhancers	NHDF-Ad	bronchial
7	chr16:80316800-80320000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr16:80317000-80317200	Enhancers	NHLF	lung
9	chr16:80317000-80320000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr16:80317600-80319400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr16:80317600-80319600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:80317600-80319800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr16:80317800-80318200	Weak transcription	NHLF	lung
14	chr16:80317800-80319600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:80317800-80320000	Enhancers	Osteobl	bone
16	chr16:80318200-80318400	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr16:80318200-80319000	Enhancers	HSMMtube	muscle
18	chr16:80318200-80319800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr16:80318200-80319800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:80318200-80320000	Enhancers	HSMM	muscle
21	chr16:80318200-80320000	Enhancers	NH-A	brain
22	chr16:80318400-80319200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr16:80318400-80319200	Enhancers	HMEC	breast
24	chr16:80318400-80319600	Enhancers	NHLF	lung
25	chr16:80318400-80319800	Enhancers	NHEK	skin
26	chr16:80319000-80319200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr16:80319000-80321800	Weak transcription	HSMMtube	muscle
28	chr16:80319600-80321800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr16:80319800-80322000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr16:80320000-80321800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr16:80320000-80321800	Weak transcription	HSMM	muscle
32	chr16:80320000-80322400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr16:80320400-80320800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr16:80320800-80321200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr16:80321800-80322600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:80321800-80323000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr16:80321800-80323600	Enhancers	HSMM	muscle
38	chr16:80321800-80323600	Enhancers	HSMMtube	muscle
39	chr16:80322000-80322200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:80322000-80322800	Enhancers	Ovary	ovary
41	chr16:80322400-80322800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr16:80322600-80324200	Enhancers	Fetal Muscle Leg	muscle
43	chr16:80322800-80323800	Weak transcription	Ovary	ovary
44	chr16:80323400-80324200	Enhancers	Fetal Intestine Small	intestine
45	chr16:80323600-80324000	Weak transcription	HSMM	muscle
46	chr16:80324000-80324200	Enhancers	Ovary	ovary
47	chr16:80328200-80329200	Enhancers	HUVEC	blood vessel
48	chr16:80329200-80330400	Weak transcription	HUVEC	blood vessel
49	chr16:80329600-80329800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr16:80329600-80329800	ZNF genes & repeats	HSMM	muscle

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