Variant report

Variant	esv3386109
Chromosome Location	chr16:73981224-73981414
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373129680	chr16:73981249-73981250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576801248	chr16:73981250-73981251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573353330	chr16:73981253-73981254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs398119495	chr16:73981262-73981263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543605073	chr16:73981272-73981273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200493612	chr16:73981273-73981274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4350596	chr16:73981283-73981284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182214900	chr16:73981284-73981285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4603585	chr16:73981285-73981286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72140184	chr16:73981286-73981287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9708717	chr16:73981295-73981296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71374589	chr16:73981296-73981297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71156192	chr16:73981298-73981299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4999794	chr16:73981299-73981300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12921447	chr16:73981301-73981302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529338567	chr16:73981328-73981329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12918082	chr16:73981329-73981330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12921463	chr16:73981331-73981332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559301912	chr16:73981339-73981340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533095638	chr16:73981343-73981344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12918092	chr16:73981345-73981346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9708271	chr16:73981347-73981348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12921474	chr16:73981349-73981350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551270713	chr16:73981360-73981361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9708583	chr16:73981364-73981365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9708584	chr16:73981366-73981367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533943834	chr16:73981367-73981368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12926018	chr16:73981368-73981369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548869803	chr16:73981381-73981382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553706077	chr16:73981405-73981406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73981000-73981600	Weak transcription	Fetal Stomach	stomach
2	chr16:73981000-73985600	Weak transcription	Brain Germinal Matrix	brain

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