Variant report

Variant	esv999287
Chromosome Location	chr16:81197489-81198254
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	chr16:81189500..81193417-chr16:81196908..81199749,3	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544226834	chr16:81197503-81197504	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs562437227	chr16:81197512-81197513	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs530393590	chr16:81197521-81197522	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs368749714	chr16:81197538-81197539	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs560322611	chr16:81197540-81197541	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs527490080	chr16:81197575-81197576	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs143449706	chr16:81197581-81197582	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs34252645	chr16:81197582-81197583	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs78701017	chr16:81197593-81197594	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs397854830	chr16:81197600-81197601	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs560853617	chr16:81197611-81197612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531473422	chr16:81197663-81197664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs180693377	chr16:81197674-81197675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186418831	chr16:81197706-81197707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187071999	chr16:81197709-81197710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190871850	chr16:81197711-81197712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533498688	chr16:81197734-81197735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139498484	chr16:81197741-81197742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567096521	chr16:81197760-81197761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144331879	chr16:81197791-81197792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555948903	chr16:81197828-81197829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567979478	chr16:81197837-81197838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538505024	chr16:81197861-81197862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377235705	chr16:81197928-81197929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570211826	chr16:81197929-81197930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556229115	chr16:81197942-81197943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577543746	chr16:81197984-81197985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181830185	chr16:81198039-81198040	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147759868	chr16:81198044-81198045	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572062240	chr16:81198050-81198051	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73585036	chr16:81198087-81198088	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560716087	chr16:81198114-81198115	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs16954787	chr16:81198147-81198148	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs543293366	chr16:81198153-81198154	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187037273	chr16:81198154-81198155	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533167003	chr16:81198177-81198178	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10400941	chr16:81198182-81198183	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs566853276	chr16:81198186-81198187	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527755619	chr16:81198190-81198191	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549611262	chr16:81198193-81198194	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567843638	chr16:81198217-81198218	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372854254	chr16:81198220-81198221	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375868924	chr16:81198228-81198229	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375009355	chr16:81198231-81198232	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113202993	chr16:81198233-81198234	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372458989	chr16:81198240-81198241	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371467837	chr16:81198241-81198242	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374404445	chr16:81198249-81198250	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74029003	chr16:81198254-81198255	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81154000-81198800	Weak transcription	Right Ventricle	heart
2	chr16:81171200-81206400	Weak transcription	Ovary	ovary
3	chr16:81175400-81201600	Weak transcription	Left Ventricle	heart
4	chr16:81188000-81209000	Weak transcription	Right Atrium	heart
5	chr16:81191200-81207000	Weak transcription	A549	lung
6	chr16:81192400-81206800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr16:81193000-81206400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:81193400-81222600	Weak transcription	Brain Angular Gyrus	brain
9	chr16:81194600-81198000	Weak transcription	Adipose Nuclei	Adipose
10	chr16:81195000-81198800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:81195000-81206800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:81195600-81214400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr16:81195800-81214000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr16:81197000-81198000	Enhancers	Placenta	Placenta
15	chr16:81197000-81219000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr16:81197200-81197600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr16:81197200-81197600	Bivalent Enhancer	HepG2	liver
18	chr16:81197200-81199600	Enhancers	Fetal Heart	heart
19	chr16:81197600-81200200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr16:81198000-81201400	Strong transcription	Adipose Nuclei	Adipose

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