Variant report

Variant	nsv573075
Chromosome Location	chr16:76926178-76972558
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	chr16:76972133..76974493-chr16:76974679..76976840,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-58C22.1.1-4	chr16:76946252-76946305	ENSG00000259995.1
2	lnc-RP11-58C22.1.1-4	chr16:76961793-76962066	ENSG00000259995.1

Extended variants
information (count: 1397 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1397 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199739530	chr16:76930204-76930205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148000824	chr16:76930206-76930207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535354875	chr16:76930210-76930211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185347763	chr16:76930211-76930212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555292724	chr16:76930219-76930220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552362714	chr16:76930220-76930221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556797900	chr16:76930221-76930222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575352523	chr16:76930222-76930223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571607317	chr16:76930226-76930227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544431919	chr16:76930258-76930259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561154505	chr16:76930259-76930260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369011051	chr16:76930277-76930278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189884197	chr16:76930280-76930281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181935212	chr16:76930289-76930290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75842187	chr16:76930299-76930300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9940495	chr16:76930340-76930341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs9939890	chr16:76930341-76930342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs577634477	chr16:76930351-76930352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9940517	chr16:76930399-76930400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs186301272	chr16:76930426-76930427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139327414	chr16:76930443-76930444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7202584	chr16:76930484-76930485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs75298858	chr16:76930486-76930487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149998678	chr16:76930487-76930488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77703738	chr16:76930506-76930507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566436856	chr16:76930507-76930508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77415955	chr16:76930517-76930518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145195513	chr16:76930564-76930565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74025378	chr16:76930580-76930581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs7201555	chr16:76930621-76930622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs534493538	chr16:76930673-76930674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149130384	chr16:76930713-76930714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73626654	chr16:76930787-76930788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs553801952	chr16:76930799-76930800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181065301	chr16:76930823-76930824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115887139	chr16:76930866-76930867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565376869	chr16:76930897-76930898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185865952	chr16:76930906-76930907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3052781	chr16:76930908-76930909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35293538	chr16:76930912-76930913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191550501	chr16:76930954-76930955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561112786	chr16:76930978-76930979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182819777	chr16:76930985-76930986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188740081	chr16:76930991-76930992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144938647	chr16:76931013-76931014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190348074	chr16:76931039-76931040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182862148	chr16:76931052-76931053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187952219	chr16:76931080-76931081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74025380	chr16:76931085-76931086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs373083150	chr16:76931104-76931105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Lung cancer	24585490	CNVD
Neuroblastoma	18923524	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20581869	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76930200-76933200	Weak transcription	Fetal Kidney	kidney
2	chr16:76931400-76932400	Enhancers	HMEC	breast
3	chr16:76931400-76935800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr16:76931600-76932400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr16:76932000-76932200	Enhancers	A549	lung
6	chr16:76932200-76933600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:76932200-76933600	Weak transcription	A549	lung
8	chr16:76932400-76932600	Enhancers	Pancreas	Pancrea
9	chr16:76932600-76940200	Weak transcription	Pancreas	Pancrea
10	chr16:76933200-76933600	Enhancers	Spleen	Spleen
11	chr16:76933200-76935400	Enhancers	Fetal Kidney	kidney
12	chr16:76933600-76934200	Enhancers	A549	lung
13	chr16:76933600-76936000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr16:76934200-76934600	Enhancers	Fetal Brain Male	brain
15	chr16:76934200-76934600	Flanking Active TSS	A549	lung
16	chr16:76934200-76935400	Enhancers	Liver	Liver
17	chr16:76934600-76935200	Enhancers	A549	lung
18	chr16:76935200-76939000	Weak transcription	A549	lung
19	chr16:76935400-76940400	Weak transcription	Fetal Kidney	kidney
20	chr16:76936000-76936200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr16:76936200-76936800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr16:76936800-76937000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr16:76938800-76939200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr16:76939000-76939400	Enhancers	A549	lung
25	chr16:76939200-76944800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr16:76939400-76944200	Weak transcription	A549	lung
27	chr16:76940200-76940600	Enhancers	Pancreas	Pancrea
28	chr16:76940400-76940600	Enhancers	Fetal Kidney	kidney
29	chr16:76940600-76942200	Weak transcription	Pancreas	Pancrea
30	chr16:76942200-76942600	Enhancers	Gastric	stomach
31	chr16:76942200-76942800	Enhancers	Pancreas	Pancrea
32	chr16:76942600-76942800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr16:76942800-76943400	Weak transcription	Pancreas	Pancrea
34	chr16:76943400-76943600	Enhancers	Pancreas	Pancrea
35	chr16:76944200-76944800	Enhancers	A549	lung
36	chr16:76944200-76947600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr16:76944400-76945400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr16:76944400-76945600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr16:76944400-76946200	Enhancers	Osteobl	bone
40	chr16:76944800-76945000	Weak transcription	A549	lung
41	chr16:76944800-76945400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr16:76945000-76945600	Active TSS	A549	lung
43	chr16:76945400-76946800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr16:76945600-76946800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr16:76945600-76947000	Enhancers	A549	lung
46	chr16:76946200-76946600	Weak transcription	Osteobl	bone
47	chr16:76946600-76947200	Enhancers	Osteobl	bone
48	chr16:76946800-76947800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr16:76947000-76947200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr16:76947000-76947200	Flanking Active TSS	A549	lung

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