Variant report

Variant	nsv573385
Chromosome Location	chr16:83059913-83080502
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	chr16:83054780..83056767-chr16:83059498..83061947,2	MCF-7	breast:

Extended variants
information (count: 1464 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1464 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8057717	chr16:83059913-83059914	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547970728	chr16:83059918-83059919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77061086	chr16:83059923-83059924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566278270	chr16:83059931-83059932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527438046	chr16:83059937-83059938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34779192	chr16:83059940-83059941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558040593	chr16:83059941-83059942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148380460	chr16:83059943-83059944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534217596	chr16:83059946-83059947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375689432	chr16:83059954-83059955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533844173	chr16:83059956-83059957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190796403	chr16:83059965-83059966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368623110	chr16:83060016-83060017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541807373	chr16:83060018-83060019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555420591	chr16:83060026-83060027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35427520	chr16:83060027-83060028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141560361	chr16:83060044-83060045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533191772	chr16:83060055-83060056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78538517	chr16:83060063-83060064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560346745	chr16:83060070-83060071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529159707	chr16:83060088-83060089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112726701	chr16:83060092-83060093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150898392	chr16:83060093-83060094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531676727	chr16:83060098-83060099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551891819	chr16:83060104-83060105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12918209	chr16:83060112-83060113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs140116462	chr16:83060140-83060141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553927241	chr16:83060148-83060149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs8057458	chr16:83060151-83060152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs567928324	chr16:83060180-83060181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536970820	chr16:83060197-83060198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs8060498	chr16:83060199-83060200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs117152574	chr16:83060206-83060207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576737433	chr16:83060213-83060214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537927296	chr16:83060289-83060290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs8060673	chr16:83060297-83060298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56125157	chr16:83060316-83060317	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs8062574	chr16:83060329-83060330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs74844626	chr16:83060336-83060337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573571232	chr16:83060387-83060388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143980895	chr16:83060401-83060402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562533796	chr16:83060426-83060427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147274060	chr16:83060433-83060434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551488679	chr16:83060454-83060455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75000921	chr16:83060458-83060459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527800199	chr16:83060461-83060462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547945184	chr16:83060466-83060467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567889995	chr16:83060484-83060485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536927895	chr16:83060485-83060486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369030465	chr16:83060488-83060489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Alveolar capillary dysplasia	19500772	CNVD
VACTERL syndrome	21315191	CNVD
T-cell lymphomas	19863542	CNVD
Developmental delay	19490664	CNVD
Neuroblastoma	18923191	CNVD
Adrenocortical carcinoma	18281524	CNVD
Developmental delay	21147756	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:83037000-83066000	Weak transcription	HSMMtube	muscle
2	chr16:83047400-83065400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:83047600-83067200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:83054600-83063200	Weak transcription	Left Ventricle	heart
5	chr16:83054800-83064400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:83056200-83065200	Weak transcription	Aorta	Aorta
7	chr16:83057400-83068400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr16:83058600-83061400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:83058600-83065600	Weak transcription	NHEK	skin
10	chr16:83058800-83070200	Weak transcription	Psoas Muscle	Psoas
11	chr16:83059200-83066000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr16:83059200-83066200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr16:83059400-83065200	Weak transcription	HSMM	muscle
14	chr16:83059800-83060000	Enhancers	Right Ventricle	heart
15	chr16:83060000-83060400	Weak transcription	Right Ventricle	heart
16	chr16:83060400-83060600	Enhancers	Right Ventricle	heart
17	chr16:83060600-83063200	Weak transcription	Right Ventricle	heart
18	chr16:83060600-83073600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:83061400-83061800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr16:83061400-83061800	Enhancers	HUVEC	blood vessel
21	chr16:83061800-83065200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr16:83062000-83062200	Enhancers	Right Atrium	heart
23	chr16:83063000-83063600	Weak transcription	Right Atrium	heart
24	chr16:83063200-83063800	Enhancers	Right Ventricle	heart
25	chr16:83063200-83064000	Enhancers	Left Ventricle	heart
26	chr16:83063600-83063800	Enhancers	Lung	lung
27	chr16:83063600-83063800	Enhancers	Right Atrium	heart
28	chr16:83063800-83065200	Weak transcription	Right Atrium	heart
29	chr16:83063800-83067200	Weak transcription	Right Ventricle	heart
30	chr16:83064000-83065200	Weak transcription	Lung	lung
31	chr16:83064000-83066200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr16:83064000-83067200	Weak transcription	Left Ventricle	heart
33	chr16:83064400-83069400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr16:83064600-83073200	Weak transcription	HMEC	breast
35	chr16:83064800-83067200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr16:83065200-83065600	Enhancers	Lung	lung
37	chr16:83065200-83065800	Enhancers	Right Atrium	heart
38	chr16:83065200-83067800	Strong transcription	Aorta	Aorta
39	chr16:83065200-83069000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr16:83065200-83070400	Strong transcription	HSMM	muscle
41	chr16:83065400-83071600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr16:83065600-83065800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr16:83065600-83070000	Weak transcription	Lung	lung
44	chr16:83065600-83070400	Strong transcription	NHEK	skin
45	chr16:83065800-83070000	Weak transcription	Right Atrium	heart
46	chr16:83066000-83067000	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr16:83066000-83069000	Strong transcription	HSMMtube	muscle
48	chr16:83066200-83066600	Strong transcription	Fetal Muscle Trunk	muscle
49	chr16:83066200-83067200	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr16:83066600-83069000	Weak transcription	Fetal Muscle Trunk	muscle

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