Variant report

Variant	nsv827777
Chromosome Location	chr16:82872227-82872944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr16:82872471-82872619	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000221395	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570223349	chr16:82872241-82872242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532733572	chr16:82872258-82872259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9934411	chr16:82872292-82872293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs566342931	chr16:82872299-82872300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9921831	chr16:82872313-82872314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs572810167	chr16:82872315-82872316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566941788	chr16:82872321-82872322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34264140	chr16:82872323-82872324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs368232318	chr16:82872348-82872349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78186874	chr16:82872362-82872363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555848169	chr16:82872367-82872368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201258417	chr16:82872372-82872373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386793131	chr16:82872375-82872376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2615129	chr16:82872377-82872378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs538823089	chr16:82872410-82872411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558498126	chr16:82872413-82872414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572271310	chr16:82872417-82872418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145231292	chr16:82872418-82872419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149138465	chr16:82872457-82872458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574896087	chr16:82872472-82872473	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs9934566	chr16:82872483-82872484	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs563802145	chr16:82872484-82872485	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs35361785	chr16:82872489-82872490	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs11645173	chr16:82872494-82872495	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs142250290	chr16:82872516-82872517	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs9932406	chr16:82872522-82872523	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs528752493	chr16:82872525-82872526	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs548474211	chr16:82872557-82872558	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs182784753	chr16:82872576-82872577	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs147873690	chr16:82872580-82872581	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs543241593	chr16:82872590-82872591	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs9922081	chr16:82872591-82872592	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs187440099	chr16:82872617-82872618	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs7206608	chr16:82872628-82872629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs538388648	chr16:82872629-82872630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527992585	chr16:82872648-82872649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558690137	chr16:82872651-82872652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377417885	chr16:82872678-82872679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542246723	chr16:82872682-82872683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142313213	chr16:82872697-82872698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528784752	chr16:82872719-82872720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534875599	chr16:82872737-82872738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370819606	chr16:82872739-82872740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9934819	chr16:82872778-82872779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs2061629	chr16:82872790-82872791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs111364786	chr16:82872801-82872802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35376052	chr16:82872807-82872808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62035167	chr16:82872810-82872811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs577236335	chr16:82872811-82872812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2113137	chr16:82872814-82872815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

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
Autism	20531469	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82833000-82873600	Weak transcription	HMEC	breast
2	chr16:82848200-82898200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:82856800-82876200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:82863200-82892800	Weak transcription	HSMMtube	muscle
5	chr16:82866800-82878600	Weak transcription	Aorta	Aorta
6	chr16:82867400-82874600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr16:82868200-82878200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr16:82868400-82874600	Weak transcription	Left Ventricle	heart
9	chr16:82868400-82876000	Weak transcription	HSMM	muscle
10	chr16:82868400-82878800	Weak transcription	Right Atrium	heart
11	chr16:82869400-82878800	Weak transcription	Right Ventricle	heart
12	chr16:82869600-82880000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:82872000-82874600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:82872400-82872600	Enhancers	Psoas Muscle	Psoas
15	chr16:82872600-82874600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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