Variant report

Variant	esv3414241
Chromosome Location	chr16:79889951-79893649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:79890476..79892006-chr16:79935047..79937129,2	K562	blood:
2	chr16:79891351..79893625-chr16:79919573..79921635,2	MCF-7	breast:
3	chr16:79890773..79893231-chr16:79899316..79902167,2	K562	blood:
4	chr16:79892054..79894771-chr16:79895938..79898564,3	K562	blood:
5	chr16:79891731..79895765-chr16:79895938..79901125,6	K562	blood:

Extended variants
information (count: 142 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573235092	chr16:79890208-79890209	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs142913785	chr16:79890214-79890215	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs555386694	chr16:79890217-79890218	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs573785270	chr16:79890234-79890235	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs151123893	chr16:79890248-79890249	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs189618300	chr16:79890249-79890250	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs192139242	chr16:79890250-79890251	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs564477116	chr16:79890262-79890263	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs184984375	chr16:79890312-79890313	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs190274414	chr16:79890316-79890317	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs528423950	chr16:79890354-79890355	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs561505873	chr16:79890367-79890368	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs113267063	chr16:79890372-79890373	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs181179835	chr16:79890417-79890418	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs371323382	chr16:79890421-79890422	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs561707670	chr16:79890423-79890424	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs74038044	chr16:79890434-79890435	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs186677285	chr16:79890440-79890441	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs76549446	chr16:79890443-79890444	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs386792710	chr16:79890506-79890507	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs116405333	chr16:79890507-79890508	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs74038045	chr16:79890525-79890526	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs188097499	chr16:79890550-79890551	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs141095735	chr16:79890551-79890552	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs537875569	chr16:79890556-79890557	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs374126089	chr16:79890570-79890571	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs368535484	chr16:79890573-79890574	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs529375574	chr16:79890574-79890575	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs181002586	chr16:79890579-79890580	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs545956957	chr16:79890584-79890585	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs12930879	chr16:79890593-79890594	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs150203405	chr16:79890596-79890597	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs374466591	chr16:79890597-79890598	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs540494849	chr16:79890601-79890602	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs561968031	chr16:79890611-79890612	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs528844665	chr16:79890624-79890625	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs138788039	chr16:79890625-79890626	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs140623333	chr16:79890659-79890660	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs114149863	chr16:79890660-79890661	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs145673111	chr16:79890663-79890664	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs138302942	chr16:79890667-79890668	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs112348073	chr16:79890674-79890675	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs569191527	chr16:79890679-79890680	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs538223073	chr16:79890680-79890681	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs556311337	chr16:79890692-79890693	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs113191037	chr16:79890693-79890694	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs538799034	chr16:79890709-79890710	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs571593278	chr16:79890711-79890712	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs573029342	chr16:79890713-79890714	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs540442575	chr16:79890726-79890727	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79890200-79891000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
2	chr16:79892800-79894600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr16:79893000-79893200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr16:79893000-79894000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:79893000-79894200	Enhancers	Primary hematopoietic stem cells	blood
6	chr16:79893000-79894600	Enhancers	Fetal Thymus	thymus
7	chr16:79893200-79893400	Enhancers	Esophagus	oesophagus
8	chr16:79893200-79893400	Enhancers	GM12878-XiMat	blood
9	chr16:79893200-79893800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr16:79893200-79893800	Enhancers	Fetal Lung	lung
11	chr16:79893400-79894000	Weak transcription	GM12878-XiMat	blood

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