Variant report

Variant	nsv8665
Chromosome Location	chr10:55341562-55361281
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	chr10:55360709..55361787-chr10:55606233..55607054,5	MCF-7	breast:
2	chr10:55360883..55361625-chr10:55568215..55569121,2	MCF-7	breast:

Extended variants
information (count: 500 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11498072	chr10:55349214-55349215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs529416068	chr10:55349235-55349236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs72791375	chr10:55349236-55349237	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs186921716	chr10:55349249-55349250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs566892093	chr10:55349250-55349251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs575532238	chr10:55349269-55349270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs351851	chr10:55349291-55349292	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs201931415	chr10:55349315-55349316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs563295270	chr10:55349345-55349346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs191698992	chr10:55349365-55349366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs542676400	chr10:55349409-55349410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs559827287	chr10:55349427-55349428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs12217919	chr10:55349450-55349451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs569313168	chr10:55349472-55349473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs7478051	chr10:55349487-55349488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs35233095	chr10:55349523-55349524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs147102844	chr10:55349524-55349525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs528663603	chr10:55349575-55349576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs2384268	chr10:55349586-55349587	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs565439064	chr10:55349587-55349588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs184045166	chr10:55349595-55349596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs551308024	chr10:55349596-55349597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs567238975	chr10:55349618-55349619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs536274317	chr10:55349619-55349620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs351852	chr10:55349643-55349644	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566594457	chr10:55349651-55349652	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs2891467	chr10:55349665-55349666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs558763602	chr10:55349678-55349679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs533818517	chr10:55349682-55349683	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs553961308	chr10:55349710-55349711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs537705942	chr10:55349747-55349748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs554457880	chr10:55349754-55349755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs11498073	chr10:55349767-55349768	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542647665	chr10:55349768-55349769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs377661474	chr10:55349769-55349770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs75453791	chr10:55349805-55349806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs559583970	chr10:55349816-55349817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs573334230	chr10:55349850-55349851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs188317265	chr10:55349874-55349875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs140218197	chr10:55349877-55349878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs377115766	chr10:55349924-55349925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs112451712	chr10:55349927-55349928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs78145073	chr10:55349942-55349943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs137975057	chr10:55349972-55349973	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs192817102	chr10:55349998-55349999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs115823521	chr10:55350006-55350007	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185286012	chr10:55350019-55350020	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61859932	chr10:55350025-55350026	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190359371	chr10:55350073-55350074	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535825469	chr10:55350099-55350100	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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	18451855	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55349200-55352400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr10:55350000-55353400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr10:55350000-55356200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:55350400-55357400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr10:55350600-55350800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr10:55351800-55353400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr10:55352000-55354200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr10:55352800-55353200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:55353200-55353400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr10:55353200-55353400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:55353400-55354000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:55353400-55355800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr10:55353400-55356000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr10:55353400-55357400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr10:55353800-55354000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr10:55354000-55359400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:55354000-55359600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:55354200-55355600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr10:55355200-55355400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr10:55355200-55355400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr10:55355200-55356600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr10:55355400-55356400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr10:55355400-55359600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr10:55355600-55357400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr10:55355600-55359400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:55355800-55359800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr10:55355800-55360000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr10:55356000-55358200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr10:55356200-55358400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr10:55356200-55359800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr10:55356400-55359200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr10:55356400-55359600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr10:55356600-55358800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr10:55356800-55357600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr10:55357000-55357400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr10:55357000-55357600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr10:55357000-55359600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr10:55357400-55358400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr10:55357400-55358400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr10:55357400-55359200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr10:55357400-55359600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr10:55357600-55358000	Enhancers	HSMMtube	muscle
43	chr10:55357600-55359200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr10:55357600-55359600	Enhancers	HMEC	breast
45	chr10:55357600-55359800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr10:55357600-55361000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr10:55357800-55359600	Enhancers	NHEK	skin
48	chr10:55357800-55359800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr10:55358000-55359800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr10:55358200-55358600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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