Variant report

Variant	esv3429406
Chromosome Location	chr16:76684151-76687849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:76319924..76320753-chr16:76686923..76687617,2	MCF-7	breast:
2	chr16:76687186..76688106-chr16:76857078..76857671,2	MCF-7	breast:
3	chr16:75835108..75835786-chr16:76687075..76687822,2	MCF-7	breast:
4	chr16:76679307..76681357-chr16:76683795..76685911,2	MCF-7	breast:
5	chr16:75834944..75835823-chr16:76687371..76688062,3	MCF-7	breast:
6	chr16:76687235..76688893-chr16:76692839..76694713,2	K562	blood:
7	chr16:76312246..76313469-chr16:76687103..76688657,6	MCF-7	breast:

Extended variants
information (count: 92 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34113077	chr16:76684422-76684423	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs547468150	chr16:76684451-76684452	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs184382491	chr16:76684497-76684498	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs371740229	chr16:76684536-76684537	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs532293591	chr16:76684562-76684563	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs147992050	chr16:76684584-76684585	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs568743695	chr16:76684587-76684588	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs571570637	chr16:76684636-76684637	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548310876	chr16:76684641-76684642	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568052694	chr16:76684652-76684653	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534053241	chr16:76684678-76684679	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187685758	chr16:76684681-76684682	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553492121	chr16:76684708-76684709	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553365852	chr16:76684710-76684711	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191261873	chr16:76684719-76684720	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549247091	chr16:76684726-76684727	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566045968	chr16:76684747-76684748	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540158392	chr16:76684757-76684758	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556873220	chr16:76684768-76684769	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535992303	chr16:76684819-76684820	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576743468	chr16:76684826-76684827	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141627689	chr16:76684834-76684835	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369292607	chr16:76684846-76684847	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562254578	chr16:76684873-76684874	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373181948	chr16:76684888-76684889	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572448598	chr16:76684893-76684894	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555570247	chr16:76684913-76684914	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150596234	chr16:76684960-76684961	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564347530	chr16:76684980-76684981	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557690860	chr16:76684987-76684988	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184123505	chr16:76685062-76685063	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188473967	chr16:76685087-76685088	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562433855	chr16:76685091-76685092	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181615541	chr16:76685109-76685110	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548086405	chr16:76685147-76685148	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568206013	chr16:76685150-76685151	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185156317	chr16:76685154-76685155	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547440851	chr16:76685182-76685183	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138635211	chr16:76685208-76685209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539422978	chr16:76685251-76685252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575290852	chr16:76685265-76685266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140256395	chr16:76685276-76685277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76586486	chr16:76685288-76685289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7205389	chr16:76685292-76685293	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs141761399	chr16:76685328-76685329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77219805	chr16:76685397-76685398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543471122	chr16:76686601-76686602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146088107	chr16:76686634-76686635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573950035	chr16:76686683-76686684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190014914	chr16:76686690-76686691	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
Lung cancer	24585490	CNVD
Cancer	20164919	CNVD
Neuroblastoma	18923524	CNVD
Cancer	20164920	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76684400-76685200	Flanking Active TSS	A549	lung
2	chr16:76684600-76685200	Enhancers	HepG2	liver
3	chr16:76685200-76685400	Enhancers	A549	lung
4	chr16:76686600-76687000	Enhancers	Fetal Brain Male	brain
5	chr16:76687200-76687800	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr16:76687200-76688000	Enhancers	Brain Substantia Nigra	brain
7	chr16:76687200-76688200	Enhancers	Fetal Lung	lung
8	chr16:76687600-76688200	Enhancers	Brain Hippocampus Middle	brain
9	chr16:76687600-76689600	Enhancers	Brain Germinal Matrix	brain

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