Variant report

Variant	esv3356377
Chromosome Location	chr16:82444451-82448649
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	chr16:82440869..82443350-chr16:82446632..82448946,3	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3901526	chr16:82446005-82446006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115538318	chr16:82446033-82446034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543457475	chr16:82446042-82446043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193029801	chr16:82446061-82446062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185188084	chr16:82446069-82446070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540691724	chr16:82446090-82446091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74030767	chr16:82446100-82446101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs3843719	chr16:82446111-82446112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74030768	chr16:82446158-82446159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs138932981	chr16:82446177-82446178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149440190	chr16:82446181-82446182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541125209	chr16:82446184-82446185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537601168	chr16:82446198-82446199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73589765	chr16:82446205-82446206	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs74030769	chr16:82446208-82446209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs566113972	chr16:82446221-82446222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188947973	chr16:82446252-82446253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529708851	chr16:82446280-82446281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143760032	chr16:82446283-82446284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78178300	chr16:82446295-82446296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536867011	chr16:82446305-82446306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558592414	chr16:82446306-82446307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79351843	chr16:82446328-82446329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142962149	chr16:82446353-82446354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552539071	chr16:82446378-82446379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146080049	chr16:82446421-82446422	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs542864557	chr16:82446429-82446430	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs114955529	chr16:82446444-82446445	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs35962750	chr16:82446447-82446448	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs543677741	chr16:82446453-82446454	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs565502761	chr16:82446467-82446468	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs532486994	chr16:82446498-82446499	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs547953995	chr16:82446505-82446506	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs140087806	chr16:82446510-82446511	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs115656846	chr16:82446519-82446520	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs548468896	chr16:82446536-82446537	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs569870470	chr16:82446541-82446542	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs552046253	chr16:82446548-82446549	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs201113444	chr16:82446560-82446561	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs570174169	chr16:82446573-82446574	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs192468727	chr16:82446589-82446590	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs558456921	chr16:82446590-82446591	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs570665485	chr16:82446605-82446606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs368563824	chr16:82446617-82446618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs13333941	chr16:82446618-82446619	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs56289848	chr16:82446633-82446634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs574055422	chr16:82446641-82446642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs59123680	chr16:82446650-82446651	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs555217603	chr16:82446651-82446652	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs61036716	chr16:82446669-82446670	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82446000-82446400	Weak transcription	Pancreas	Pancrea
2	chr16:82446400-82446600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:82446400-82446600	ZNF genes & repeats	Pancreas	Pancrea
4	chr16:82446400-82446800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr16:82447000-82447200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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