Variant report

Variant	esv3423234
Chromosome Location	chr10:21521746-21523944
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	chr10:21523588..21525703-chr10:21531837..21534250,2	K562	blood:
2	chr10:21521446..21521946-chr19:36527653..36528209,2	Hela-S3	cervix:

Extended variants
information (count: 109 )
Associated
traits (count: 35 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376840291	chr10:21521828-21521829	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72798595	chr10:21521850-21521851	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs545907164	chr10:21521855-21521856	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562606428	chr10:21521953-21521954	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567234570	chr10:21521979-21521980	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531513024	chr10:21521980-21521981	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11592695	chr10:21521981-21521982	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs11596876	chr10:21521985-21521986	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs140277679	chr10:21522031-21522032	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs11594881	chr10:21522045-21522046	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs374948570	chr10:21522049-21522050	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs11012593	chr10:21522050-21522051	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs549845638	chr10:21522058-21522059	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs114554041	chr10:21522091-21522092	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs535573262	chr10:21522106-21522107	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs555505897	chr10:21522127-21522128	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs11596900	chr10:21522139-21522140	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs11595400	chr10:21522175-21522176	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs188677158	chr10:21522197-21522198	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs11594928	chr10:21522264-21522265	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs193297361	chr10:21522365-21522366	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs545843835	chr10:21522410-21522411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185601775	chr10:21522415-21522416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187699975	chr10:21522427-21522428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11594971	chr10:21522433-21522434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs115106236	chr10:21522466-21522467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11595448	chr10:21522482-21522483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs34088853	chr10:21522513-21522514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540956310	chr10:21522533-21522534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149960843	chr10:21522564-21522565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533148958	chr10:21522577-21522578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11012594	chr10:21522581-21522582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11012595	chr10:21522587-21522588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191374895	chr10:21522594-21522595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145060310	chr10:21522604-21522605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11527738	chr10:21522607-21522608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs368145559	chr10:21522613-21522614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199721397	chr10:21522627-21522628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11595466	chr10:21522638-21522639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs11012596	chr10:21522668-21522669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11012597	chr10:21522686-21522687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529307432	chr10:21522687-21522688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11012598	chr10:21522688-21522689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs566137457	chr10:21522701-21522702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181467092	chr10:21522717-21522718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11012599	chr10:21522735-21522736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11012600	chr10:21522736-21522737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548862410	chr10:21522746-21522747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146784177	chr10:21522756-21522757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10828223	chr10:21522785-21522786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:35)

Disease	PMID	Source
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
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
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:21502600-21522000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr10:21520800-21521800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:21521000-21522000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr10:21521400-21522000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr10:21521400-21522400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr10:21521400-21525400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:21521800-21523200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:21522000-21522200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr10:21522000-21549600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr10:21522200-21549200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:21523000-21523800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr10:21523200-21524000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr10:21523800-21524000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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