Variant report

Variant	esv19845
Chromosome Location	chr10:16284959-16291617
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 295 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192920066	chr10:16285030-16285031	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs554007852	chr10:16285066-16285067	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs11253864	chr10:16285171-16285172	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs1417093	chr10:16285200-16285201	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs77350233	chr10:16285222-16285223	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11253865	chr10:16285227-16285228	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs184141059	chr10:16285254-16285255	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189523818	chr10:16285256-16285257	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145548696	chr10:16285265-16285266	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369848626	chr10:16285267-16285268	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373349274	chr10:16285270-16285271	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548113605	chr10:16285300-16285301	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538707042	chr10:16285321-16285322	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376066069	chr10:16285328-16285329	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533309184	chr10:16285363-16285364	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181836388	chr10:16285365-16285366	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115629703	chr10:16285367-16285368	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79248168	chr10:16285371-16285372	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552714693	chr10:16285412-16285413	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs530859298	chr10:16285441-16285442	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs568096509	chr10:16285458-16285459	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs572377536	chr10:16285462-16285463	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs535380025	chr10:16285488-16285489	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs536233556	chr10:16285496-16285497	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs111740999	chr10:16285512-16285513	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs59395121	chr10:16285529-16285530	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs77888540	chr10:16285578-16285579	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs147703104	chr10:16285617-16285618	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs572371122	chr10:16285657-16285658	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs74577285	chr10:16285681-16285682	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs557998042	chr10:16285703-16285704	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs576441684	chr10:16285711-16285712	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs543922769	chr10:16285735-16285736	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs184835848	chr10:16285751-16285752	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs574019499	chr10:16285767-16285768	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs541075081	chr10:16285774-16285775	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs140783256	chr10:16285799-16285800	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs533461566	chr10:16285806-16285807	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs74127021	chr10:16285808-16285809	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs11591252	chr10:16285822-16285823	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs189607836	chr10:16285861-16285862	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs549889841	chr10:16285883-16285884	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs10795361	chr10:16285885-16285886	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs181580079	chr10:16285888-16285889	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs187168990	chr10:16285930-16285931	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs114999745	chr10:16285932-16285933	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs565943616	chr10:16285961-16285962	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs539776508	chr10:16286022-16286023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189400040	chr10:16286033-16286034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544176186	chr10:16286041-16286042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Renal cell carcinoma	18765545	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
DiGeorge-Velo cardiofacial	22470819	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
Adrenocortical carcinoma	18281524	CNVD
Digeorge syndrome	17576883	CNVD
Lung cancer	16773561	CNVD
Velocardiofacial syndrome	17576883	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Hepatocellular carcinoma	16750200	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Thymic lymphomas tumor	22700994	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:16282600-16285400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:16284200-16286600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr10:16284400-16285000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr10:16284400-16285000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr10:16284400-16286200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr10:16284600-16285000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr10:16284600-16285000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr10:16284600-16285800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr10:16284800-16285000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr10:16284800-16285400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:16284800-16285600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr10:16284800-16285600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr10:16284800-16285600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr10:16284800-16285800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr10:16284800-16286000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr10:16285000-16285200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr10:16285000-16285200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr10:16285000-16285200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr10:16285000-16285800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:16285000-16286000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr10:16285000-16286200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr10:16285200-16285800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr10:16285200-16285800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr10:16285200-16286000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr10:16285400-16286000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr10:16285400-16286000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr10:16285600-16286800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr10:16285800-16286000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr10:16285800-16286200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr10:16286000-16286400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr10:16286000-16287600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:16286600-16295600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr10:16286800-16288000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr10:16287600-16287800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr10:16288400-16288600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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