Variant report

Variant	nsv1903
Chromosome Location	chr16:83035452-83080314
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:
2	chr16:83054780..83056767-chr16:83059498..83061947,2	MCF-7	breast:

Extended variants
information (count: 2987 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:2987 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561071408	chr16:83035453-83035454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147017984	chr16:83035476-83035477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369939557	chr16:83035501-83035502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568046738	chr16:83035513-83035514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562285917	chr16:83035518-83035519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138203304	chr16:83035527-83035528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557374299	chr16:83035530-83035531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143673797	chr16:83035547-83035548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72794156	chr16:83035565-83035566	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs12924771	chr16:83035574-83035575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553507976	chr16:83035650-83035651	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs573448016	chr16:83035652-83035653	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs368101503	chr16:83035653-83035654	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs117280103	chr16:83035662-83035663	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs556073588	chr16:83035665-83035666	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs548090896	chr16:83035672-83035673	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs182247590	chr16:83035707-83035708	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs12925978	chr16:83035708-83035709	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs376694689	chr16:83035722-83035723	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs150549149	chr16:83035729-83035730	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs545460993	chr16:83035733-83035734	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs559036051	chr16:83035742-83035743	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs185740145	chr16:83035752-83035753	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs369876036	chr16:83035797-83035798	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs527269849	chr16:83035806-83035807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139525532	chr16:83035817-83035818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568013126	chr16:83035818-83035819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35590447	chr16:83035831-83035832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149261643	chr16:83035845-83035846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189050542	chr16:83035851-83035852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537558658	chr16:83035874-83035875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570779098	chr16:83035896-83035897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144486511	chr16:83035908-83035909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553471082	chr16:83035918-83035919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs180881582	chr16:83035928-83035929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372816537	chr16:83035946-83035947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375411419	chr16:83035950-83035951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536051754	chr16:83035951-83035952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77721964	chr16:83035990-83035991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143986878	chr16:83036003-83036004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567890756	chr16:83036012-83036013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535300939	chr16:83036032-83036033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544842173	chr16:83036114-83036115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558185926	chr16:83036115-83036116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs80260714	chr16:83036187-83036188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551917566	chr16:83036188-83036189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545427983	chr16:83036196-83036197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559000224	chr16:83036209-83036210	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs528221139	chr16:83036222-83036223	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs7195876	chr16:83036233-83036234	Weak transcription Enhancers Flanking Active TSS	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
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:83029800-83035800	Weak transcription	Right Atrium	heart
2	chr16:83029800-83038200	Weak transcription	Right Ventricle	heart
3	chr16:83030200-83035800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr16:83030200-83037000	Weak transcription	NHEK	skin
5	chr16:83030200-83047200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:83030200-83053200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:83030400-83036000	Weak transcription	HSMM	muscle
8	chr16:83030600-83047000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:83030800-83036200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr16:83030800-83036200	Weak transcription	Left Ventricle	heart
11	chr16:83030800-83036200	Weak transcription	Pancreas	Pancrea
12	chr16:83030800-83036200	Weak transcription	Osteobl	bone
13	chr16:83030800-83039000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:83031000-83035800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr16:83033600-83036200	Weak transcription	Fetal Intestine Large	intestine
16	chr16:83033600-83036600	Weak transcription	Fetal Intestine Small	intestine
17	chr16:83034800-83035600	Enhancers	HUVEC	blood vessel
18	chr16:83035200-83036600	Enhancers	Psoas Muscle	Psoas
19	chr16:83035400-83036200	Weak transcription	Aorta	Aorta
20	chr16:83035600-83035800	Flanking Active TSS	HUVEC	blood vessel
21	chr16:83035800-83036000	Enhancers	Right Atrium	heart
22	chr16:83035800-83036200	Enhancers	HUVEC	blood vessel
23	chr16:83035800-83037000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr16:83035800-83037600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:83036000-83036400	Weak transcription	Right Atrium	heart
26	chr16:83036000-83037000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr16:83036000-83037200	Enhancers	HSMM	muscle
28	chr16:83036200-83036600	Flanking Active TSS	HUVEC	blood vessel
29	chr16:83036200-83036800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr16:83036200-83036800	Enhancers	NH-A	brain
31	chr16:83036200-83037000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr16:83036200-83037000	Enhancers	Left Ventricle	heart
33	chr16:83036200-83037000	Enhancers	Pancreas	Pancrea
34	chr16:83036200-83037000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr16:83036200-83037000	Enhancers	HSMMtube	muscle
36	chr16:83036200-83037000	Enhancers	NHDF-Ad	bronchial
37	chr16:83036200-83037200	Enhancers	Fetal Intestine Large	intestine
38	chr16:83036200-83037400	Enhancers	Aorta	Aorta
39	chr16:83036200-83037400	Enhancers	Osteobl	bone
40	chr16:83036200-83038400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:83036400-83036600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr16:83036400-83036800	Enhancers	Right Atrium	heart
43	chr16:83036400-83037000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr16:83036400-83037000	Enhancers	Fetal Stomach	stomach
45	chr16:83036600-83037000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr16:83036600-83037400	Enhancers	Fetal Intestine Small	intestine
47	chr16:83036600-83037400	Enhancers	NHLF	lung
48	chr16:83036600-83039400	Enhancers	HUVEC	blood vessel
49	chr16:83036600-83046600	Weak transcription	Psoas Muscle	Psoas
50	chr16:83036800-83037000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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