Variant report

Variant	esv11751
Chromosome Location	chr10:1342801-1343614
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:1343104..1343866-chr10:1410880..1411791,3	MCF-7	breast:
2	chr10:1343061..1343857-chr10:1429361..1429938,3	MCF-7	breast:
3	chr10:1335815..1339939-chr10:1340197..1343625,5	MCF-7	breast:
4	chr10:1337321..1341033-chr10:1341220..1344425,4	K562	blood:
5	chr10:1343525..1344053-chr10:2964654..2965501,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10903418	chr10:1342809-1342810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10903419	chr10:1342819-1342820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs150586681	chr10:1342846-1342847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369454579	chr10:1342847-1342848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181680092	chr10:1342857-1342858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568971449	chr10:1342878-1342879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576603361	chr10:1342939-1342940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185322379	chr10:1343009-1343010	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11599315	chr10:1343017-1343018	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
10	rs139626814	chr10:1343025-1343026	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11593264	chr10:1343042-1343043	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs527761153	chr10:1343120-1343121	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553985740	chr10:1343196-1343197	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577070139	chr10:1343197-1343198	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11594721	chr10:1343198-1343199	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs189806344	chr10:1343206-1343207	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564100310	chr10:1343213-1343214	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575310066	chr10:1343217-1343218	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533147539	chr10:1343270-1343271	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145326582	chr10:1343278-1343279	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544268379	chr10:1343314-1343315	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561249175	chr10:1343317-1343318	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574931894	chr10:1343361-1343362	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540482195	chr10:1343363-1343364	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11813583	chr10:1343373-1343374	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532903432	chr10:1343395-1343396	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545795431	chr10:1343405-1343406	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs562503976	chr10:1343406-1343407	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs17156175	chr10:1343407-1343408	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs548238593	chr10:1343426-1343427	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs549712455	chr10:1343437-1343438	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs568065109	chr10:1343447-1343448	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs72762927	chr10:1343451-1343452	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs58525927	chr10:1343523-1343524	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs201961175	chr10:1343525-1343526	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs199850451	chr10:1343526-1343527	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs549126973	chr10:1343548-1343549	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs35620030	chr10:1343558-1343559	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs142398879	chr10:1343559-1343560	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs181446635	chr10:1343570-1343571	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs556056429	chr10:1343576-1343577	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs56718200	chr10:1343591-1343592	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs58991694	chr10:1343596-1343597	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs12570479	chr10:1343614-1343615	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	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
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1329200-1352600	Weak transcription	Right Atrium	heart
2	chr10:1337000-1343000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr10:1340200-1352800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr10:1340400-1344000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr10:1340800-1344000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:1342400-1343000	Weak transcription	Primary T cells from cord blood	blood
7	chr10:1343000-1343200	Enhancers	Primary T cells from cord blood	blood
8	chr10:1343000-1344200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr10:1343200-1343400	Enhancers	Brain Cingulate Gyrus	brain

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