Variant report

Variant	esv3397515
Chromosome Location	chr16:79818451-79822849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:79810413..79812648-chr16:79818258..79820940,2	MCF-7	breast:

Extended variants
information (count: 208 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:208 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140130912	chr16:79818477-79818478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533544955	chr16:79818490-79818491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149814094	chr16:79818495-79818496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546387619	chr16:79818524-79818525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560752934	chr16:79818648-79818649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527936683	chr16:79818649-79818650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140319075	chr16:79818651-79818652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370167957	chr16:79818652-79818653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552420504	chr16:79818655-79818656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377588471	chr16:79818679-79818680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567314048	chr16:79818680-79818681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117181999	chr16:79818696-79818697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374386019	chr16:79818705-79818706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144781160	chr16:79818713-79818714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373583844	chr16:79818734-79818735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184790803	chr16:79818740-79818741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557631052	chr16:79818758-79818759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542566483	chr16:79818771-79818772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534075539	chr16:79818812-79818813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555738386	chr16:79818820-79818821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28370546	chr16:79818821-79818822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs543890804	chr16:79818825-79818826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373739543	chr16:79818851-79818852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148597892	chr16:79818916-79818917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142963862	chr16:79818933-79818934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545096779	chr16:79818946-79818947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201680353	chr16:79819021-79819022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75449694	chr16:79819033-79819034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs66819679	chr16:79819036-79819037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150363202	chr16:79819038-79819039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560433957	chr16:79819107-79819108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188793819	chr16:79819115-79819116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542899195	chr16:79819124-79819125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367906840	chr16:79819130-79819131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570178811	chr16:79819163-79819164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191371253	chr16:79819172-79819173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115764979	chr16:79819226-79819227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147676787	chr16:79819236-79819237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532455009	chr16:79819264-79819265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547919235	chr16:79819265-79819266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142325667	chr16:79819279-79819280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534011106	chr16:79819377-79819378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144745999	chr16:79819384-79819385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79305451	chr16:79819390-79819391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112858233	chr16:79819393-79819394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147891755	chr16:79819399-79819400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555845409	chr16:79819445-79819446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528392818	chr16:79819451-79819452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183946818	chr16:79819475-79819476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553486858	chr16:79819491-79819492	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
Schizophrenia	21346763	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79814000-79839600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:79818400-79823200	Weak transcription	Esophagus	oesophagus
3	chr16:79820400-79820800	ZNF genes & repeats	Pancreas	Pancrea
4	chr16:79820600-79820800	Enhancers	Gastric	stomach
5	chr16:79821400-79821600	Enhancers	Fetal Stomach	stomach
6	chr16:79821600-79824200	Weak transcription	Fetal Stomach	stomach
7	chr16:79822800-79823400	Enhancers	NHEK	skin

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