Variant report

Variant	nsv550283
Chromosome Location	chr10:28144330-28167326
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	chr10:28166524..28168170-chr10:28169949..28171674,2	K562	blood:
2	chr10:28153808..28154667-chr10:28468156..28469155,3	MCF-7	breast:

Extended variants
information (count: 849 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:849 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2368266	chr10:28144330-28144331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs377200778	chr10:28144379-28144380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114851806	chr10:28144387-28144388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182595090	chr10:28144412-28144413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552469826	chr10:28144448-28144449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372581754	chr10:28144453-28144454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570785848	chr10:28144527-28144528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114715337	chr10:28144536-28144537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371578704	chr10:28144551-28144552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs55671233	chr10:28144601-28144602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112223562	chr10:28144612-28144613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147880687	chr10:28144663-28144664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557043988	chr10:28144718-28144719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141528772	chr10:28144744-28144745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368079133	chr10:28144897-28144898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539673353	chr10:28145039-28145040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528838213	chr10:28145103-28145104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573499714	chr10:28145106-28145107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541021251	chr10:28145112-28145113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145691866	chr10:28145133-28145134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574385051	chr10:28145151-28145152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541528059	chr10:28145195-28145196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548690659	chr10:28145196-28145197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3831254	chr10:28145201-28145202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151115819	chr10:28145252-28145253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187060682	chr10:28145266-28145267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1547327	chr10:28145440-28145441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs528422766	chr10:28145464-28145465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369766418	chr10:28145479-28145480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546875232	chr10:28145487-28145488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561892460	chr10:28145496-28145497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141066040	chr10:28145556-28145557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7096753	chr10:28145568-28145569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs569045287	chr10:28145613-28145614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12773965	chr10:28145629-28145630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs369667087	chr10:28145664-28145665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567060203	chr10:28145672-28145673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112634343	chr10:28145678-28145679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376386391	chr10:28145749-28145750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192378253	chr10:28145765-28145766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556042155	chr10:28145772-28145773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574322461	chr10:28145849-28145850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370683536	chr10:28145874-28145875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184277182	chr10:28145875-28145876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551716619	chr10:28145876-28145877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557075187	chr10:28145883-28145884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575447995	chr10:28145884-28145885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190388918	chr10:28145892-28145893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193248025	chr10:28145917-28145918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184467239	chr10:28146031-28146032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

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
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	22341455	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28121000-28158600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:28141200-28153800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr10:28144600-28144800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr10:28144600-28144800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:28144800-28152600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:28145000-28146600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:28146200-28147200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr10:28146400-28146800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr10:28146400-28146800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr10:28146400-28146800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr10:28146400-28147000	Enhancers	H9 Cell Line	embryonic stem cell
12	chr10:28146400-28147000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:28146400-28147000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr10:28146400-28147000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr10:28146400-28147200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr10:28146400-28147400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr10:28146400-28147400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr10:28146400-28147600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr10:28146600-28146800	Enhancers	Esophagus	oesophagus
20	chr10:28146600-28147000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:28146600-28147000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr10:28146600-28147000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr10:28146600-28147000	Enhancers	Fetal Heart	heart
24	chr10:28146600-28147000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr10:28146600-28147200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr10:28146600-28147400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr10:28146600-28147400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr10:28146800-28147000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr10:28146800-28147000	Bivalent Enhancer	HSMMtube	muscle
30	chr10:28146800-28147200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr10:28147000-28147400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
32	chr10:28147200-28147400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr10:28147200-28149400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr10:28147400-28147600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr10:28149400-28149800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:28149600-28149800	Bivalent Enhancer	Esophagus	oesophagus
37	chr10:28149800-28154400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr10:28152600-28152800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr10:28153600-28155000	Enhancers	HMEC	breast
40	chr10:28153800-28154400	Enhancers	Aorta	Aorta
41	chr10:28153800-28154600	Enhancers	NHEK	skin
42	chr10:28153800-28154800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr10:28153800-28154800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr10:28153800-28155000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr10:28154000-28154600	Enhancers	Esophagus	oesophagus
46	chr10:28154000-28154800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr10:28154200-28154600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr10:28154200-28154800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr10:28154400-28154600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr10:28154400-28154600	Enhancers	Osteobl	bone

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