Variant report

Variant	esv3364395
Chromosome Location	chr16:80236698-80237060
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	chr16:80236581..80241287-chr16:80241834..80245112,5	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541594882	chr16:80236712-80236713	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs553303581	chr16:80236731-80236732	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs141516724	chr16:80236738-80236739	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs541920751	chr16:80236744-80236745	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs563301155	chr16:80236789-80236790	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs189905815	chr16:80236795-80236796	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs545923242	chr16:80236807-80236808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565164409	chr16:80236825-80236826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17735114	chr16:80236843-80236844	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs547535743	chr16:80236862-80236863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562092412	chr16:80236870-80236871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201770400	chr16:80236881-80236882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529768720	chr16:80236905-80236906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115200354	chr16:80236924-80236925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192980664	chr16:80236937-80236938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537043186	chr16:80236946-80236947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374614197	chr16:80236958-80236959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558300048	chr16:80236976-80236977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184607749	chr16:80236985-80236986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143717326	chr16:80236997-80236998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188240700	chr16:80237013-80237014	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs545069308	chr16:80237024-80237025	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs148102193	chr16:80237029-80237030	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs28615887	chr16:80237041-80237042	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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	chr16:80232000-80237000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr16:80233200-80237200	Weak transcription	NHDF-Ad	bronchial
3	chr16:80233200-80238400	Weak transcription	Fetal Lung	lung
4	chr16:80233600-80236800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr16:80236000-80238400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr16:80236400-80238200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:80236400-80238200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:80236400-80238200	Enhancers	HMEC	breast
9	chr16:80236600-80236800	Flanking Active TSS	NHEK	skin
10	chr16:80236600-80237800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr16:80236600-80238000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr16:80236800-80237000	Enhancers	NHEK	skin
13	chr16:80236800-80238000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:80237000-80237200	Enhancers	Esophagus	oesophagus
15	chr16:80237000-80237200	Flanking Active TSS	NHEK	skin
16	chr16:80237000-80239000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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