Variant report

Variant	nsv523872
Chromosome Location	chr16:73986771-73993052
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:73990566..73991128-chr16:74260572..74261318,2	MCF-7	breast:
2	chr16:73748191..73748792-chr16:73990234..73991163,4	MCF-7	breast:
3	chr16:73990170..73991091-chr16:74068493..74069035,2	MCF-7	breast:
4	chr16:73598757..73599423-chr16:73991227..73991798,2	MCF-7	breast:
5	chr16:73990291..73990950-chr16:74068417..74069327,2	MCF-7	breast:
6	chr16:73912334..73913139-chr16:73990173..73991006,2	MCF-7	breast:
7	chr16:73764561..73765193-chr16:73987981..73988674,2	MCF-7	breast:
8	chr16:73598863..73599792-chr16:73989910..73991145,6	MCF-7	breast:
9	chr16:73992368..73994990-chr16:73995142..73997032,2	MCF-7	breast:

No data

Extended variants
information (count: 172 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2663157	chr16:73986771-73986772	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541001677	chr16:73986814-73986815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559240871	chr16:73986827-73986828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533044963	chr16:73986858-73986859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551596359	chr16:73986877-73986878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73609066	chr16:73986891-73986892	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs139605476	chr16:73986892-73986893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191944651	chr16:73986921-73986922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142854573	chr16:73987022-73987023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534616841	chr16:73987055-73987056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552989158	chr16:73987056-73987057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs151096187	chr16:73987071-73987072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563987956	chr16:73987153-73987154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182656989	chr16:73987174-73987175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372046435	chr16:73987230-73987231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558372475	chr16:73987247-73987248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576572323	chr16:73987252-73987253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188180013	chr16:73987269-73987270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555465166	chr16:73987287-73987288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373238074	chr16:73987312-73987313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114827003	chr16:73987333-73987334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571500296	chr16:73987361-73987362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192479189	chr16:73987364-73987365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184506602	chr16:73987373-73987374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559315988	chr16:73987390-73987391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533095510	chr16:73987414-73987415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544982853	chr16:73987472-73987473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533922370	chr16:73987478-73987479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553895041	chr16:73987487-73987488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530639503	chr16:73987489-73987490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573739474	chr16:73987497-73987498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549127054	chr16:73987499-73987500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188985156	chr16:73987503-73987504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4542683	chr16:73987504-73987505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555859786	chr16:73987508-73987509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377390664	chr16:73987519-73987520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs71388995	chr16:73987540-73987541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546664933	chr16:73987541-73987542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571254141	chr16:73987550-73987551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538588571	chr16:73987551-73987552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2526075	chr16:73987570-73987571	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs545364688	chr16:73987574-73987575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6564749	chr16:73987598-73987599	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs537266212	chr16:73987647-73987648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184764943	chr16:73987667-73987668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377382191	chr16:73987672-73987673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573828225	chr16:73987681-73987682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534782168	chr16:73987686-73987687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189195217	chr16:73987705-73987706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577960210	chr16:73987709-73987710	Weak transcription	n/a	n/a	Overlapped CNVs	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
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioma	20126413	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73983400-73990800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr16:73984200-73986800	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr16:73985400-73986800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:73985600-73989200	Weak transcription	Colon Smooth Muscle	Colon
5	chr16:73986000-73988200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:73986000-73990800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr16:73986400-73987600	Enhancers	Fetal Brain Male	brain
8	chr16:73986600-73986800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:73986600-73986800	Enhancers	Fetal Lung	lung
10	chr16:73986600-73989800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr16:73986800-73990000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:73986800-73990200	Weak transcription	Fetal Lung	lung
13	chr16:73988200-73988400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:73988400-73989000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:73989000-73989200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:73989000-73990400	Enhancers	Brain Germinal Matrix	brain
17	chr16:73989000-73990600	Enhancers	Fetal Stomach	stomach
18	chr16:73989200-73989400	Enhancers	Colon Smooth Muscle	Colon
19	chr16:73989400-73989800	Weak transcription	Colon Smooth Muscle	Colon
20	chr16:73989600-73990600	Active TSS	Stomach Smooth Muscle	stomach
21	chr16:73989800-73990200	Active TSS	Rectal Smooth Muscle	rectum
22	chr16:73989800-73990400	Active TSS	Colon Smooth Muscle	Colon
23	chr16:73990000-73990200	Enhancers	Fetal Brain Male	brain
24	chr16:73990000-73991000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr16:73990200-73990400	Enhancers	Fetal Lung	lung
26	chr16:73990200-73990600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr16:73990400-73990600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr16:73990400-73990800	Weak transcription	Fetal Lung	lung
29	chr16:73990800-73991200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr16:73990800-73991200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr16:73990800-73991200	Enhancers	Fetal Lung	lung
32	chr16:73991000-73991200	Enhancers	NHDF-Ad	bronchial

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