Variant report

Variant	esv6166
Chromosome Location	chr16:80468372-80469231
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	chr16:80467020..80469434-chr16:80558552..80560756,2	K562	blood:
2	chr16:80453914..80455778-chr16:80465927..80468447,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187119720	chr16:80468378-80468379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372648797	chr16:80468391-80468392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191447377	chr16:80468412-80468413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7187760	chr16:80468449-80468450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs182172554	chr16:80468481-80468482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555923397	chr16:80468535-80468536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375686904	chr16:80468594-80468595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574076410	chr16:80468631-80468632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537932143	chr16:80468634-80468635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369043928	chr16:80468645-80468646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373169909	chr16:80468646-80468647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566701175	chr16:80468738-80468739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370544693	chr16:80468753-80468754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113035873	chr16:80468785-80468786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556154238	chr16:80468802-80468803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187966186	chr16:80468896-80468897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545694900	chr16:80468975-80468976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567644673	chr16:80468977-80468978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377046569	chr16:80469014-80469015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193138029	chr16:80469032-80469033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540083445	chr16:80469035-80469036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535778890	chr16:80469058-80469059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561906668	chr16:80469060-80469061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537900049	chr16:80469071-80469072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142314194	chr16:80469074-80469075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562473400	chr16:80469084-80469085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185599070	chr16:80469103-80469104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533387254	chr16:80469115-80469116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78660336	chr16:80469116-80469117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76225937	chr16:80469131-80469132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146119184	chr16:80469134-80469135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567096002	chr16:80469157-80469158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534482847	chr16:80469170-80469171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549343599	chr16:80469180-80469181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78630384	chr16:80469183-80469184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537969636	chr16:80469184-80469185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376408971	chr16:80469196-80469197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575594507	chr16:80469225-80469226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80467000-80468400	Enhancers	HMEC	breast
2	chr16:80467200-80468400	Enhancers	NHEK	skin
3	chr16:80467400-80468400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr16:80468200-80471000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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