Variant report

Variant	esv2760424
Chromosome Location	chr16:79977619-79981715
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	chr16:79978107..79980812-chr16:80004750..80007386,2	K562	blood:
2	chr16:79974991..79977318-chr16:79978031..79980888,2	MCF-7	breast:

Extended variants
information (count: 91 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554674774	chr16:79977637-79977638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537319471	chr16:79977681-79977682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112980785	chr16:79977697-79977698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573744731	chr16:79977709-79977710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551084757	chr16:79977713-79977714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145691845	chr16:79977718-79977719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191226378	chr16:79977754-79977755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182679675	chr16:79977802-79977803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570621019	chr16:79977870-79977871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs16951724	chr16:79977905-79977906	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs570858553	chr16:79977906-79977907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539441464	chr16:79977918-79977919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187670023	chr16:79977920-79977921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs59235092	chr16:79977921-79977922	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs370874928	chr16:79977936-79977937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147744699	chr16:79977951-79977952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575464177	chr16:79977977-79977978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs8048628	chr16:79977978-79977979	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs564820654	chr16:79977988-79977989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7498944	chr16:79978014-79978015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112449350	chr16:79978044-79978045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112611580	chr16:79978057-79978058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111916040	chr16:79978077-79978078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74643336	chr16:79978084-79978085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569358634	chr16:79978088-79978089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185060189	chr16:79978096-79978097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145763972	chr16:79978103-79978104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148948296	chr16:79978114-79978115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534573969	chr16:79978118-79978119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544317243	chr16:79978129-79978130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74322606	chr16:79978136-79978137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567765027	chr16:79978148-79978149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4627372	chr16:79978170-79978171	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs556674366	chr16:79978178-79978179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574963010	chr16:79978189-79978190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540023931	chr16:79978191-79978192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4445915	chr16:79978200-79978201	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs113578982	chr16:79978231-79978232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4627367	chr16:79978234-79978235	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs540616309	chr16:79978250-79978251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562345825	chr16:79978281-79978282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4340341	chr16:79978314-79978315	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs115151436	chr16:79978340-79978341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4346216	chr16:79978343-79978344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533224672	chr16:79978345-79978346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187497502	chr16:79978349-79978350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552359016	chr16:79978381-79978382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143141343	chr16:79978395-79978396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113715888	chr16:79978403-79978404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564218063	chr16:79978406-79978407	Enhancers	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79977000-79978200	Enhancers	Fetal Heart	heart
2	chr16:79977400-79978000	Enhancers	HSMMtube	muscle
3	chr16:79977400-79978200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr16:79977400-79978200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:79977400-79978200	Enhancers	HMEC	breast
6	chr16:79977600-79978000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:79977600-79978000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:79977600-79978000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:79977600-79978200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr16:79977600-79978200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr16:79977600-79978200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr16:79977600-79978200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr16:79977600-79978200	Enhancers	Right Atrium	heart
14	chr16:79977600-79978400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:79977600-79978400	Enhancers	NHEK	skin
16	chr16:79977600-79978600	Enhancers	Osteobl	bone
17	chr16:79977800-79978200	Enhancers	HSMM	muscle
18	chr16:79977800-79978600	Enhancers	NH-A	brain
19	chr16:79981200-79982400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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