Variant report

Variant	esv3348591
Chromosome Location	chr16:72387854-72389785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553657379	chr16:72387947-72387948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11642808	chr16:72387972-72387973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149941577	chr16:72387973-72387974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373348164	chr16:72387986-72387987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563928065	chr16:72388027-72388028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184348721	chr16:72388032-72388033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189285674	chr16:72388044-72388045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562812232	chr16:72388086-72388087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530121961	chr16:72388129-72388130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548250084	chr16:72388137-72388138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180804943	chr16:72388158-72388159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553990185	chr16:72388215-72388216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567175800	chr16:72388241-72388242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527988828	chr16:72388277-72388278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12149747	chr16:72388292-72388293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144020109	chr16:72388406-72388407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148696739	chr16:72388454-72388455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374627113	chr16:72388484-72388485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549873144	chr16:72388584-72388585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568031901	chr16:72388606-72388607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535432465	chr16:72388664-72388665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553345999	chr16:72388690-72388691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34649914	chr16:72388724-72388725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572047520	chr16:72388773-72388774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545983994	chr16:72388807-72388808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545948331	chr16:72388808-72388809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557558995	chr16:72388814-72388815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576206501	chr16:72388830-72388831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34726113	chr16:72388840-72388841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186443969	chr16:72388861-72388862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543217218	chr16:72388862-72388863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189234629	chr16:72388881-72388882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559922544	chr16:72388889-72388890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201243243	chr16:72388905-72388906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200030628	chr16:72388910-72388911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577988599	chr16:72389017-72389018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542291283	chr16:72389034-72389035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560488313	chr16:72389050-72389051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144481771	chr16:72389093-72389094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528559827	chr16:72389187-72389188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552884889	chr16:72389206-72389207	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs564744532	chr16:72389211-72389212	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs7198449	chr16:72389230-72389231	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs550058550	chr16:72389246-72389247	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs575711845	chr16:72389275-72389276	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs181646728	chr16:72389278-72389279	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs535189960	chr16:72389290-72389291	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs374502116	chr16:72389348-72389349	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs565314915	chr16:72389350-72389351	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs141495940	chr16:72389355-72389356	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72367200-72389200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:72367200-72405000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:72367200-72423600	Weak transcription	Thymus	Thymus
4	chr16:72370200-72399600	Weak transcription	Primary B cells from cord blood	blood
5	chr16:72388400-72389800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr16:72388600-72389600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr16:72389000-72389200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr16:72389000-72389600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr16:72389200-72389600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:72389200-72389600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr16:72389200-72389600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr16:72389200-72389600	Enhancers	Aorta	Aorta
13	chr16:72389200-72390000	Enhancers	Osteobl	bone
14	chr16:72389600-72390200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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