Variant report

Variant	esv3412656
Chromosome Location	chr10:22588496-22590819
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:22587575..22590267-chr10:22594069..22596300,2	K562	blood:
2	chr10:22590240..22592920-chr10:22595487..22597865,3	K562	blood:
3	chr10:22590293..22591848-chr10:22594050..22596135,2	MCF-7	breast:
4	chr10:22588979..22590675-chr10:22598467..22601137,2	K562	blood:
5	chr10:22585106..22587652-chr10:22589891..22591612,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12255961	chr10:22590216-22590217	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547698352	chr10:22590230-22590231	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570296849	chr10:22590242-22590243	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150830409	chr10:22590275-22590276	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535790930	chr10:22590293-22590294	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549858082	chr10:22590304-22590305	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139234553	chr10:22590348-22590349	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377626560	chr10:22590349-22590350	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191124562	chr10:22590376-22590377	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555441714	chr10:22590388-22590389	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566086874	chr10:22590414-22590415	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs182363337	chr10:22590481-22590482	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs533898732	chr10:22590487-22590488	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs578212839	chr10:22590495-22590496	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs150011849	chr10:22590505-22590506	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs557595575	chr10:22590514-22590515	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs576169017	chr10:22590530-22590531	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs541927402	chr10:22590559-22590560	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs561501991	chr10:22590587-22590588	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs572041817	chr10:22590601-22590602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79800006	chr10:22590653-22590654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564086031	chr10:22590665-22590666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7916150	chr10:22590681-22590682	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs185513763	chr10:22590726-22590727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

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
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22590200-22590400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr10:22590200-22590600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:22590400-22590600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:22590400-22590800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr10:22590600-22591800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:22590800-22591200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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