Variant report

Variant	esv3312540
Chromosome Location	chr16:76537151-76545949
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	chr16:76542177..76544098-chr6:26155995..26158781,2	MCF-7	breast:
2	chr16:76534271..76535887-chr16:76537682..76540215,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168298	chromatin interactions
ENSG00000158373	chromatin interactions

Extended variants
information (count: 399 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184332222	chr16:76537153-76537154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189277915	chr16:76537184-76537185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534430689	chr16:76537185-76537186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75064630	chr16:76537188-76537189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540899095	chr16:76537231-76537232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543057840	chr16:76537293-76537294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34646763	chr16:76537309-76537310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374754555	chr16:76537337-76537338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181232452	chr16:76537343-76537344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs8046535	chr16:76537356-76537357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs564395935	chr16:76537359-76537360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533026097	chr16:76537361-76537362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4430774	chr16:76537387-76537388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs569667436	chr16:76537399-76537400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528928120	chr16:76537418-76537419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530446493	chr16:76537423-76537424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73618168	chr16:76537427-76537428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs184928520	chr16:76537438-76537439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534311652	chr16:76537448-76537449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139393452	chr16:76537462-76537463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368280642	chr16:76537471-76537472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571866130	chr16:76537479-76537480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537254118	chr16:76537511-76537512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557493213	chr16:76537555-76537556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574070135	chr16:76537575-76537576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543169572	chr16:76537580-76537581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12444293	chr16:76537582-76537583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs545416772	chr16:76537592-76537593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564226599	chr16:76537599-76537600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533220293	chr16:76537612-76537613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543274412	chr16:76537695-76537696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563526877	chr16:76537704-76537705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs60859544	chr16:76537710-76537711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548712035	chr16:76537716-76537717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559022332	chr16:76537733-76537734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189049175	chr16:76537736-76537737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551313294	chr16:76537746-76537747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181457348	chr16:76537782-76537783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12447315	chr16:76537796-76537797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs12447929	chr16:76537837-76537838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs567892086	chr16:76537904-76537905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536830477	chr16:76537915-76537916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186141025	chr16:76537921-76537922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573326878	chr16:76537923-76537924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78756472	chr16:76537936-76537937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558884162	chr16:76537956-76537957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534283412	chr16:76537959-76537960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575528926	chr16:76537960-76537961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543735663	chr16:76537977-76537978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367608182	chr16:76537992-76537993	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
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	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
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	24585490	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76524600-76537200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr16:76525200-76554000	Weak transcription	Brain Inferior Temporal Lobe	brain

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