Variant report

Variant	nsv949450
Chromosome Location	chr16:83044981-83099707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:83080752..83083462-chr16:83086655..83088428,2	K562	blood:
2	chr16:83080752..83083462-chr16:83086655..83088428,2	K562	blood:
3	chr16:83054780..83056767-chr16:83059498..83061947,2	MCF-7	breast:
4	chr16:83054780..83056767-chr16:83059498..83061947,2	MCF-7	breast:

Extended variants
information (count: 3786 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:3786 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11150532	chr16:83044981-83044982	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74596222	chr16:83045014-83045015	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs190461183	chr16:83045037-83045038	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs556983236	chr16:83045050-83045051	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs535836558	chr16:83045051-83045052	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs554569057	chr16:83045052-83045053	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs150462053	chr16:83045057-83045058	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs183068778	chr16:83045080-83045081	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs374072973	chr16:83045094-83045095	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs74652997	chr16:83045129-83045130	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs539085761	chr16:83045144-83045145	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs138287845	chr16:83045147-83045148	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs572575434	chr16:83045159-83045160	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs534950797	chr16:83045169-83045170	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs555301904	chr16:83045174-83045175	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs571081996	chr16:83045182-83045183	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs575141650	chr16:83045191-83045192	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs544139284	chr16:83045193-83045194	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs532057242	chr16:83045210-83045211	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs187860621	chr16:83045212-83045213	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs193280836	chr16:83045217-83045218	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs149610390	chr16:83045226-83045227	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs564865267	chr16:83045246-83045247	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs550564093	chr16:83045258-83045259	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs182513426	chr16:83045300-83045301	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs76819578	chr16:83045342-83045343	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs529897004	chr16:83045364-83045365	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs545505630	chr16:83045370-83045371	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs7500323	chr16:83045374-83045375	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs7500228	chr16:83045382-83045383	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs538682764	chr16:83045405-83045406	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138863974	chr16:83045430-83045431	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566091660	chr16:83045444-83045445	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535124277	chr16:83045467-83045468	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141957676	chr16:83045500-83045501	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146289954	chr16:83045511-83045512	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551082559	chr16:83045512-83045513	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537713433	chr16:83045557-83045558	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374707126	chr16:83045561-83045562	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557715922	chr16:83045572-83045573	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575976644	chr16:83045625-83045626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187735764	chr16:83045638-83045639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77738362	chr16:83045640-83045641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571999322	chr16:83045644-83045645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372219081	chr16:83045678-83045679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541129447	chr16:83045782-83045783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192402765	chr16:83045789-83045790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7500448	chr16:83045790-83045791	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs558483417	chr16:83045808-83045809	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371136093	chr16:83045853-83045854	Weak transcription Flanking Active TSS 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
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:230 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:83030200-83047200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr16:83030200-83053200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr16:83030600-83047000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:83036600-83046600	Weak transcription	Psoas Muscle	Psoas
5	chr16:83037000-83048800	Weak transcription	NHDF-Ad	bronchial
6	chr16:83037000-83049400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr16:83037000-83066000	Weak transcription	HSMMtube	muscle
8	chr16:83037200-83058000	Weak transcription	HSMM	muscle
9	chr16:83038400-83047400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:83039200-83054000	Weak transcription	Left Ventricle	heart
11	chr16:83039400-83052200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:83039400-83054000	Weak transcription	Right Ventricle	heart
13	chr16:83040200-83045000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr16:83040200-83045000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:83044400-83047600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr16:83044600-83045000	Enhancers	Osteobl	bone
17	chr16:83044600-83047000	Weak transcription	Aorta	Aorta
18	chr16:83044600-83049000	Weak transcription	Fetal Brain Female	brain
19	chr16:83045000-83045200	Enhancers	Lung	lung
20	chr16:83045000-83045400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr16:83045000-83045400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr16:83045000-83045400	Flanking Active TSS	Osteobl	bone
23	chr16:83045200-83046200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr16:83045400-83045600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr16:83045400-83047600	Enhancers	Osteobl	bone
26	chr16:83045600-83045800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr16:83045800-83046400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:83046200-83046400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr16:83046400-83047600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr16:83046600-83047200	Enhancers	Psoas Muscle	Psoas
31	chr16:83047000-83047400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr16:83047000-83047600	Enhancers	Aorta	Aorta
33	chr16:83047200-83047600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr16:83047200-83058400	Weak transcription	Psoas Muscle	Psoas
35	chr16:83047400-83047600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr16:83047400-83047600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr16:83047400-83065400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr16:83047600-83050200	Weak transcription	Aorta	Aorta
39	chr16:83047600-83056200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr16:83047600-83067200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr16:83048200-83054200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr16:83048800-83050200	Enhancers	NHDF-Ad	bronchial
43	chr16:83049000-83050400	Enhancers	Fetal Brain Female	brain
44	chr16:83049400-83049600	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr16:83050200-83051000	Enhancers	Aorta	Aorta
46	chr16:83051000-83055400	Weak transcription	Aorta	Aorta
47	chr16:83052200-83053800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr16:83053200-83054800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr16:83053800-83054000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr16:83054000-83054600	Enhancers	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links