Variant report

Variant	nsv94404
Chromosome Location	chr15:29621569-29628345
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	chr15:29620661..29622350-chr15:29660071..29662947,2	MCF-7	breast:

Extended variants
information (count: 248 )
Associated
traits (count: 160 )

Variant overlapped rSNPs/rCNVs (count:248 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61171471	chr15:29621582-29621583	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544275244	chr15:29621586-29621587	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564642359	chr15:29621638-29621639	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs139255465	chr15:29621657-29621658	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs145328560	chr15:29621691-29621692	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs560688658	chr15:29621705-29621706	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs553446566	chr15:29621739-29621740	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs147698326	chr15:29621740-29621741	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs140789503	chr15:29621743-29621744	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs7181088	chr15:29621771-29621772	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs531384746	chr15:29621805-29621806	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs144700227	chr15:29621845-29621846	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs571355314	chr15:29621858-29621859	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs550656181	chr15:29621874-29621875	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs184576066	chr15:29621876-29621877	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs115611409	chr15:29621885-29621886	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs145024623	chr15:29621902-29621903	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs567142979	chr15:29621917-29621918	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs535991688	chr15:29621963-29621964	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs149084388	chr15:29622018-29622019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs143186204	chr15:29622032-29622033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs151210460	chr15:29622059-29622060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs544626039	chr15:29622086-29622087	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs557844270	chr15:29622120-29622121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs189292563	chr15:29622126-29622127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs540746555	chr15:29622133-29622134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs370101503	chr15:29622139-29622140	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs560530637	chr15:29622141-29622142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs35552351	chr15:29622143-29622144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs140105228	chr15:29622186-29622187	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs543241022	chr15:29622195-29622196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs145210943	chr15:29622201-29622202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs191372999	chr15:29622242-29622243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs551386799	chr15:29622292-29622293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs137871926	chr15:29622349-29622350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs142491775	chr15:29622364-29622365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs144663755	chr15:29622369-29622370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs138916704	chr15:29622370-29622371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs112355454	chr15:29622371-29622372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs144844778	chr15:29622415-29622416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs372646992	chr15:29622456-29622457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs184331238	chr15:29622460-29622461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs539635106	chr15:29622468-29622469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs188484389	chr15:29622479-29622480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs377483955	chr15:29622484-29622485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs560186058	chr15:29622486-29622487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs578072532	chr15:29622503-29622504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs534142181	chr15:29622517-29622518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs817956	chr15:29622527-29622528	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs574176622	chr15:29622528-29622529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:160)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prader-willi syndrome	21504564	CNVD
The inv dup or idic syndrome	19019226	CNVD
Prader-willi syndrome	21233802	CNVD
Angelman syndrome	16617304	CNVD
Angelman syndrome	20970697	CNVD
Autism	22958593	CNVD
Prader-willi syndrome	16617304	CNVD
Prader-willi syndrome	18923514	CNVD
Prader-willi syndrome	20970697	CNVD
Angelman syndrome	16183798	CNVD
Angelman syndrome	18923514	CNVD
Prader-willi syndrome	22241247	CNVD
Epilepsy	20970697	CNVD
Autism	20970697	CNVD
Autism	19935738	CNVD
Autism	22930557	CNVD
Autism	19966786	CNVD
Autism	18923514	CNVD
Autism	18925931	CNVD
Autism	18835857	CNVD
Prader-willi syndrome	18835857	CNVD
Prader-willi syndrome	22152151	CNVD
Autism	22241247	CNVD
15q-syndrome	21725066	CNVD
Prader-willi syndrome	21503198	CNVD
Autism	21956041	CNVD
Prader-willi syndrome	16760730	CNVD
Prader-willi syndrome	22470819	CNVD
prenatal diagnosis	20453657	CNVD
Prader-willi syndrome	17867985	CNVD
Angelman syndrome	21072004	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Prader-willi syndrome	18781185	CNVD
Melanoma	18172304	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Schizophrenia	19197363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Angelman syndrome	18787571	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Abnormal corpus callosum	21572526	CNVD
Autism	20531469	CNVD
Neuropsychiatric disorder	20506139	CNVD
Austim spectrum disorder	21302340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Mental retardation	17124404	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	19843651	CNVD
Schizophrenia	19843651	CNVD
Schizophrenia	23813976	CNVD
Cognitive impairment	21505072	CNVD
Epilepsy	20502679	CNVD
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495309	CNVD
Schizophrenia	20388499	CNVD
Autism	20841430	CNVD
Epilepsy	22499536	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Mental retardation	21956041	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Autism	21269290	CNVD
Intellectual disability	21269290	CNVD
Schizophrenia	21269290	CNVD
Colorectal cancer	21128281	CNVD
Epilepsy	19289393	CNVD
Epilepsy	20643615	CNVD
Mental retardation	19289393	CNVD
Mental retardation	20152051	CNVD
Schizophrenia	19289393	CNVD
dysmorphic features	19289393	CNVD
idiopathic epilepsies	19341504	CNVD
idiopathic generalized epilepsy	19592580	CNVD
idiopathic generalized epilepsy	19136953	CNVD
Autism	22094647	CNVD
Developmental delay	19898479	CNVD
Mental retardation	18278044	CNVD
Mental retardation	19898479	CNVD
Prader-willi syndrome	18854863	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:29620800-29623400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
2	chr15:29621400-29621800	Enhancers	GM12878-XiMat	blood
3	chr15:29621600-29622000	Enhancers	Primary B cells from cord blood	blood
4	chr15:29623400-29623600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr15:29623600-29623800	Enhancers	Primary B cells from peripheral blood	blood
6	chr15:29625200-29629000	Weak transcription	Pancreas	Pancrea
7	chr15:29625400-29625600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:29625600-29626200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:29626200-29635600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:29627200-29627800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr15:29627600-29627800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr15:29627800-29628800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr15:29627800-29629000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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