Variant report

Variant	nsv520894
Chromosome Location	chr16:80042806-80050270
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80048057..80048870-chr16:80118180..80118757,4	MCF-7	breast:
2	chr16:80019688..80022858-chr16:80044337..80047415,3	K562	blood:
3	chr16:80046883..80048814-chr16:80056548..80058307,2	MCF-7	breast:
4	chr16:80049338..80051609-chr16:80053857..80056370,2	MCF-7	breast:
5	chr16:80049883..80052966-chr16:80055781..80058097,4	MCF-7	breast:
6	chr16:80044369..80046184-chr16:80046733..80049485,2	MCF-7	breast:
7	chr16:80040089..80044174-chr16:80060281..80063913,4	MCF-7	breast:
8	chr16:80044369..80046184-chr16:80046733..80049485,2	MCF-7	breast:
9	chr16:80045568..80049024-chr16:80056361..80060062,5	MCF-7	breast:
10	chr16:80048792..80050777-chr16:80060648..80062252,3	MCF-7	breast:
11	chr16:80036287..80041295-chr16:80046094..80052714,5	K562	blood:

No data

Extended variants
information (count: 444 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:444 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8063712	chr16:80042806-80042807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs193044844	chr16:80042811-80042812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185336740	chr16:80042812-80042813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34167965	chr16:80042853-80042854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547299768	chr16:80042860-80042861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75476485	chr16:80042874-80042875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536109554	chr16:80042887-80042888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189818572	chr16:80042919-80042920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557085887	chr16:80042926-80042927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375318828	chr16:80042928-80042929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575544500	chr16:80042935-80042936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139646084	chr16:80042936-80042937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558270506	chr16:80042941-80042942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568261832	chr16:80042971-80042972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117854457	chr16:80042976-80042977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9929759	chr16:80042989-80042990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs72815833	chr16:80042998-80042999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs574655026	chr16:80043001-80043002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542062117	chr16:80043033-80043034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192914813	chr16:80043069-80043070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530416047	chr16:80043117-80043118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570699512	chr16:80043133-80043134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9929923	chr16:80043138-80043139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs528144730	chr16:80043154-80043155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546893893	chr16:80043163-80043164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568597046	chr16:80043180-80043181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535776085	chr16:80043183-80043184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184322655	chr16:80043208-80043209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77205561	chr16:80043209-80043210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539824283	chr16:80043224-80043225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9930005	chr16:80043258-80043259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs573392889	chr16:80043259-80043260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534247481	chr16:80043295-80043296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188623315	chr16:80043297-80043298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561787934	chr16:80043298-80043299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9924359	chr16:80043313-80043314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs554996735	chr16:80043321-80043322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547951443	chr16:80043373-80043374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374995231	chr16:80043374-80043375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78053315	chr16:80043392-80043393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574921444	chr16:80043414-80043415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9931548	chr16:80043430-80043431	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs563703405	chr16:80043433-80043434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528179880	chr16:80043452-80043453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543963441	chr16:80043467-80043468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180983771	chr16:80043494-80043495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376604453	chr16:80043527-80043528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9932265	chr16:80043548-80043549	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs529477384	chr16:80043562-80043563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148811781	chr16:80043583-80043584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Adrenocortical carcinoma	18281524	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80040400-80057200	Weak transcription	Esophagus	oesophagus
2	chr16:80040600-80043400	Weak transcription	Ovary	ovary
3	chr16:80040800-80043400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr16:80041600-80043400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr16:80041800-80046600	Weak transcription	Fetal Stomach	stomach
6	chr16:80043400-80044400	Enhancers	Aorta	Aorta
7	chr16:80043400-80044600	Enhancers	Stomach Smooth Muscle	stomach
8	chr16:80043400-80044800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr16:80043400-80045000	Enhancers	Ovary	ovary
10	chr16:80043600-80043800	Enhancers	Small Intestine	intestine
11	chr16:80044000-80044800	Enhancers	Liver	Liver
12	chr16:80044400-80044600	Enhancers	Small Intestine	intestine
13	chr16:80046600-80046800	Enhancers	Fetal Stomach	stomach
14	chr16:80046600-80046800	Enhancers	K562	blood
15	chr16:80046800-80047400	Weak transcription	Fetal Stomach	stomach
16	chr16:80047400-80048000	Enhancers	Fetal Stomach	stomach
17	chr16:80047800-80048600	Enhancers	HepG2	liver
18	chr16:80047800-80049800	Enhancers	HMEC	breast
19	chr16:80048000-80048400	Enhancers	A549	lung
20	chr16:80048000-80049400	Weak transcription	Fetal Stomach	stomach
21	chr16:80048200-80048400	Enhancers	HSMMtube	muscle
22	chr16:80048400-80049000	Weak transcription	HSMMtube	muscle
23	chr16:80049000-80049800	Enhancers	HSMMtube	muscle
24	chr16:80049000-80050000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr16:80049200-80049800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr16:80049400-80049800	Enhancers	Fetal Stomach	stomach
27	chr16:80049800-80051800	Weak transcription	Fetal Stomach	stomach
28	chr16:80049800-80057200	Weak transcription	HSMMtube	muscle
29	chr16:80050200-80051400	Enhancers	Fetal Intestine Small	intestine

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