Variant report

Variant	esv3390330
Chromosome Location	chr10:55281995-55298396
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	chr10:55271750..55273969-chr10:55282270..55285131,2	MCF-7	breast:

Extended variants
information (count: 692 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:692 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67779403	chr10:55282027-55282028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs180811324	chr10:55282073-55282074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200012520	chr10:55282103-55282104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71459488	chr10:55282104-55282105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374303885	chr10:55282105-55282106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71490967	chr10:55282123-55282124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs12784523	chr10:55282128-55282129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201230292	chr10:55282148-55282149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577977554	chr10:55282176-55282177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10825052	chr10:55282179-55282180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs141101004	chr10:55282227-55282228	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574276676	chr10:55282248-55282249	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543292199	chr10:55282264-55282265	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113922975	chr10:55282305-55282306	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552615324	chr10:55282314-55282315	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573446938	chr10:55282384-55282385	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184660412	chr10:55282410-55282411	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372182406	chr10:55282429-55282430	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566035487	chr10:55282433-55282434	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375767030	chr10:55282441-55282442	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138729692	chr10:55282460-55282461	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189377700	chr10:55282479-55282480	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113268152	chr10:55282506-55282507	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149359869	chr10:55282525-55282526	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566008168	chr10:55282552-55282553	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147451793	chr10:55282591-55282592	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565613419	chr10:55282599-55282600	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138436294	chr10:55282654-55282655	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35020825	chr10:55282665-55282666	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199926826	chr10:55282666-55282667	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10555936	chr10:55282676-55282677	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs397730165	chr10:55282678-55282679	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73237596	chr10:55282694-55282695	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs571579838	chr10:55282729-55282730	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576538540	chr10:55282739-55282740	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377700493	chr10:55282756-55282757	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143908737	chr10:55282806-55282807	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545444625	chr10:55282836-55282837	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181298139	chr10:55282855-55282856	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7082398	chr10:55282870-55282871	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs115809977	chr10:55282918-55282919	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185948186	chr10:55282933-55282934	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573357312	chr10:55282941-55282942	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545642510	chr10:55282973-55282974	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190720997	chr10:55283058-55283059	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7069859	chr10:55283083-55283084	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs147194991	chr10:55283132-55283133	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79506467	chr10:55283153-55283154	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529706378	chr10:55283183-55283184	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7070023	chr10:55283186-55283187	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55278600-55288600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr10:55278800-55282200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:55282200-55283200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:55283400-55283800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr10:55283400-55284000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:55283400-55284000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr10:55283800-55284000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:55284000-55288800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr10:55288600-55289000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr10:55288600-55289400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr10:55288600-55290600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr10:55288800-55289000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr10:55288800-55289200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr10:55288800-55289400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr10:55289000-55290200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr10:55289000-55315600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr10:55289400-55290400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr10:55290200-55290600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:55290400-55290600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr10:55290400-55290600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr10:55290400-55291000	Enhancers	Fetal Heart	heart
22	chr10:55290400-55291400	Enhancers	Fetal Lung	lung
23	chr10:55295800-55296400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr10:55296000-55296600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr10:55296400-55297200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr10:55296600-55297600	Enhancers	Liver	Liver
27	chr10:55297000-55297800	Enhancers	HUVEC	blood vessel
28	chr10:55297200-55297600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr10:55297200-55297600	Enhancers	HMEC	breast
30	chr10:55297400-55298000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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