Variant report

Variant	esv2763145
Chromosome Location	chr16:79589827-79595961
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:79581170..79583871-chr16:79589118..79591243,2	K562	blood:
2	chr16:79589254..79592175-chr16:79597127..79599892,2	MCF-7	breast:
3	chr16:79590048..79591563-chr16:79622856..79624638,2	MCF-7	breast:

Extended variants
information (count: 192 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80002373	chr16:79591005-79591006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150826357	chr16:79591010-79591011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539081854	chr16:79591029-79591030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551346888	chr16:79591048-79591049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139226939	chr16:79591052-79591053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73585193	chr16:79591061-79591062	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs372734852	chr16:79591067-79591068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs60175205	chr16:79591072-79591073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369794064	chr16:79591073-79591074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573732153	chr16:79591076-79591077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370700577	chr16:79591084-79591085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556399208	chr16:79591093-79591094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs578025014	chr16:79591128-79591129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147704104	chr16:79591137-79591138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140797760	chr16:79591161-79591162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183055813	chr16:79591179-79591180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112786706	chr16:79591188-79591189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542913370	chr16:79591195-79591196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145259909	chr16:79591213-79591214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371968488	chr16:79591238-79591239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550318734	chr16:79591248-79591249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546556428	chr16:79591253-79591254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562444721	chr16:79591262-79591263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186719519	chr16:79591273-79591274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs250151	chr16:79591279-79591280	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs114885698	chr16:79591291-79591292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527612348	chr16:79591326-79591327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528500418	chr16:79591336-79591337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567518312	chr16:79591338-79591339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144986421	chr16:79591341-79591342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556278132	chr16:79591348-79591349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72806527	chr16:79591351-79591352	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs568471806	chr16:79591353-79591354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530987663	chr16:79591371-79591372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553798251	chr16:79591394-79591395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550658994	chr16:79591401-79591402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572088075	chr16:79591404-79591405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542577460	chr16:79591411-79591412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552795455	chr16:79591434-79591435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576627132	chr16:79591439-79591440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570353200	chr16:79591446-79591447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539232894	chr16:79591447-79591448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543661541	chr16:79591458-79591459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs250150	chr16:79591459-79591460	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs149116044	chr16:79591491-79591492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201178435	chr16:79591499-79591500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560224075	chr16:79591519-79591520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527299908	chr16:79591529-79591530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143163509	chr16:79591549-79591550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191614928	chr16:79591571-79591572	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
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79591000-79591400	Enhancers	Fetal Intestine Large	intestine
2	chr16:79591000-79591800	Enhancers	Fetal Intestine Small	intestine
3	chr16:79593800-79594000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:79593800-79594200	Enhancers	Adipose Nuclei	Adipose
5	chr16:79593800-79595400	Enhancers	Liver	Liver
6	chr16:79594000-79595000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr16:79594200-79594400	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr16:79594400-79594600	Enhancers	Adipose Nuclei	Adipose
9	chr16:79594600-79594800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:79594600-79595000	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr16:79594800-79597000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:79595000-79599000	Weak transcription	Adipose Nuclei	Adipose
13	chr16:79595400-79595800	Flanking Active TSS	Liver	Liver
14	chr16:79595800-79596200	Enhancers	Brain Anterior Caudate	brain
15	chr16:79595800-79597000	Enhancers	Brain Substantia Nigra	brain
16	chr16:79595800-79597200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr16:79595800-79598200	Enhancers	Liver	Liver

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