Variant report

Variant	esv3374582
Chromosome Location	chr16:79891276-79893824
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:79890476..79892006-chr16:79935047..79937129,2	K562	blood:
2	chr16:79891351..79893625-chr16:79919573..79921635,2	MCF-7	breast:
3	chr16:79892054..79894771-chr16:79895938..79898564,3	K562	blood:
4	chr16:79890773..79893231-chr16:79899316..79902167,2	K562	blood:
5	chr16:79891731..79895765-chr16:79895938..79901125,6	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77086073	chr16:79892830-79892831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150353165	chr16:79892838-79892839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs193019605	chr16:79892850-79892851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138010695	chr16:79892863-79892864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78532418	chr16:79892870-79892871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185776724	chr16:79892880-79892881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570595098	chr16:79892888-79892889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535207276	chr16:79892903-79892904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189903374	chr16:79892909-79892910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575024621	chr16:79892925-79892926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561860753	chr16:79892930-79892931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536105480	chr16:79892940-79892941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557374563	chr16:79892955-79892956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575568925	chr16:79892972-79892973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545896630	chr16:79893003-79893004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377186900	chr16:79893004-79893005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573031680	chr16:79893015-79893016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77919279	chr16:79893019-79893020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559080295	chr16:79893024-79893025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546803672	chr16:79893027-79893028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548434678	chr16:79893036-79893037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149541581	chr16:79893058-79893059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530510501	chr16:79893061-79893062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374201438	chr16:79893064-79893065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536281540	chr16:79893087-79893088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146076662	chr16:79893089-79893090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138910844	chr16:79893121-79893122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs193190201	chr16:79893129-79893130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546728277	chr16:79893144-79893145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142712569	chr16:79893148-79893149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535694558	chr16:79893177-79893178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557601117	chr16:79893192-79893193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575883856	chr16:79893196-79893197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539427998	chr16:79893198-79893199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs56086972	chr16:79893206-79893207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78688838	chr16:79893226-79893227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76432758	chr16:79893239-79893240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147351255	chr16:79893291-79893292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34742640	chr16:79893308-79893309	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs541693016	chr16:79893314-79893315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557935934	chr16:79893316-79893317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183957555	chr16:79893381-79893382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188739070	chr16:79893383-79893384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111926238	chr16:79893385-79893386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370530431	chr16:79893405-79893406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61176300	chr16:79893408-79893409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35993458	chr16:79893409-79893410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533473626	chr16:79893415-79893416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139600174	chr16:79893416-79893417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564031577	chr16:79893428-79893429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Hypoplastic left heart syndrome	22349727	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79892800-79894600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr16:79893000-79893200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr16:79893000-79894000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:79893000-79894200	Enhancers	Primary hematopoietic stem cells	blood
5	chr16:79893000-79894600	Enhancers	Fetal Thymus	thymus
6	chr16:79893200-79893400	Enhancers	Esophagus	oesophagus
7	chr16:79893200-79893400	Enhancers	GM12878-XiMat	blood
8	chr16:79893200-79893800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr16:79893200-79893800	Enhancers	Fetal Lung	lung
10	chr16:79893400-79894000	Weak transcription	GM12878-XiMat	blood
11	chr16:79893800-79894600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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