Variant report

Variant	esv3336512
Chromosome Location	chr16:76175851-76179649
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	chr16:76170732..76173663-chr16:76174703..76177407,2	MCF-7	breast:

Extended variants
information (count: 179 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:179 , 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	rs142296636	chr16:76175881-76175882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs80339656	chr16:76175935-76175936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143113695	chr16:76175957-76175958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562396054	chr16:76175984-76175985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113271087	chr16:76176051-76176052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367938821	chr16:76176063-76176064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189869979	chr16:76176096-76176097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564383249	chr16:76176147-76176148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533470104	chr16:76176150-76176151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9928740	chr16:76176189-76176190	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs558363872	chr16:76176191-76176192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181473474	chr16:76176235-76176236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34202123	chr16:76176237-76176238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141457479	chr16:76176297-76176298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565277623	chr16:76176302-76176303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117881894	chr16:76176307-76176308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187046164	chr16:76176350-76176351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547574515	chr16:76176385-76176386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570428674	chr16:76176392-76176393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551406690	chr16:76176406-76176407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190980185	chr16:76176425-76176426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559937843	chr16:76176438-76176439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556021353	chr16:76176440-76176441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573530669	chr16:76176474-76176475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150442047	chr16:76176486-76176487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138205200	chr16:76176497-76176498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142725325	chr16:76176503-76176504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531422706	chr16:76176514-76176515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572786964	chr16:76176527-76176528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541219745	chr16:76176548-76176549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558352287	chr16:76176570-76176571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113352361	chr16:76176571-76176572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377733781	chr16:76176574-76176575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146061472	chr16:76176595-76176596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557385846	chr16:76176611-76176612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529246061	chr16:76176643-76176644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139002366	chr16:76176661-76176662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1423874	chr16:76176700-76176701	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs183509205	chr16:76176729-76176730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77622106	chr16:76176739-76176740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570612146	chr16:76176742-76176743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533010275	chr16:76176743-76176744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532871994	chr16:76176757-76176758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185313093	chr16:76176768-76176769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527628295	chr16:76176785-76176786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190019228	chr16:76176798-76176799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535400182	chr16:76176799-76176800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547623706	chr16:76176802-76176803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182890907	chr16:76176810-76176811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113599436	chr16:76176817-76176818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76158200-76181400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:76174000-76176200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:76176600-76176800	Enhancers	Brain Angular Gyrus	brain
4	chr16:76179400-76179600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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