Variant report

Variant	esv3509342
Chromosome Location	chr16:80196706-80197192
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	chr16:80192745..80194874-chr16:80195006..80196730,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8044077	chr16:80196714-80196715	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542834135	chr16:80196758-80196759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146819065	chr16:80196759-80196760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576100886	chr16:80196781-80196782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543008297	chr16:80196817-80196818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564959661	chr16:80196847-80196848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535205266	chr16:80196891-80196892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191495567	chr16:80196895-80196896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532025274	chr16:80196897-80196898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74964959	chr16:80196900-80196901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374130446	chr16:80196903-80196904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200094516	chr16:80196904-80196905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201274980	chr16:80196905-80196906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541315153	chr16:80196907-80196908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183356946	chr16:80196924-80196925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187851845	chr16:80196936-80196937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369338233	chr16:80197010-80197011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202092434	chr16:80197047-80197048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140565377	chr16:80197063-80197064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531043966	chr16:80197066-80197067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552561154	chr16:80197078-80197079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570858916	chr16:80197083-80197084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535061876	chr16:80197092-80197093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571804391	chr16:80197099-80197100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373615068	chr16:80197106-80197107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143156142	chr16:80197108-80197109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565984806	chr16:80197133-80197134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536024116	chr16:80197134-80197135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554755015	chr16:80197146-80197147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576007334	chr16:80197151-80197152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4889115	chr16:80197159-80197160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs151192428	chr16:80197175-80197176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576412726	chr16:80197183-80197184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192736686	chr16:80197185-80197186	Weak transcription	n/a	n/a	Overlapped CNVs	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
Myelofibrosis	22110671	CNVD
Adrenocortical carcinoma	18281524	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80186600-80197600	Weak transcription	HSMMtube	muscle
2	chr16:80192800-80197600	Weak transcription	Pancreas	Pancrea
3	chr16:80193200-80199600	Weak transcription	A549	lung
4	chr16:80193400-80197600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr16:80193400-80197800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:80193400-80197800	Weak transcription	Osteobl	bone
7	chr16:80193400-80199200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr16:80193600-80197400	Weak transcription	HSMM	muscle
9	chr16:80193600-80197600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:80193600-80197600	Weak transcription	NH-A	brain
11	chr16:80193600-80197800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr16:80193600-80201400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:80193600-80207600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr16:80193800-80201400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr16:80196200-80197000	Enhancers	Fetal Kidney	kidney
16	chr16:80197000-80200800	Weak transcription	Fetal Kidney	kidney

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