Variant report

Variant	nsv1032778
Chromosome Location	chr5:45962084-46172365
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	chr1:63102529..63105125-chr5:46100658..46103318,2	MCF-7	breast:

Extended variants
information (count: 10547 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:10547 , 50 per page) page: 1 2 3 4 5 6 7 ... 211

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560385405	chr5:45962088-45962089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs577010100	chr5:45962089-45962090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs545935208	chr5:45962090-45962091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs369905499	chr5:45962091-45962092	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs370753489	chr5:45962101-45962102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs547802724	chr5:45962112-45962113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs376942421	chr5:45962121-45962122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs547825186	chr5:45962122-45962123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs182218708	chr5:45962140-45962141	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs187148721	chr5:45962146-45962147	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs112469660	chr5:45962162-45962163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs141939658	chr5:45962164-45962165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs192489913	chr5:45962198-45962199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs552667310	chr5:45962199-45962200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs559922451	chr5:45963018-45963019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs4490592	chr5:45963019-45963020	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs376497523	chr5:45963033-45963034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs565190306	chr5:45963051-45963052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs369477117	chr5:45963088-45963089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs200127684	chr5:45963106-45963107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs189402054	chr5:45963125-45963126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs569635926	chr5:45963138-45963139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs569457095	chr5:45963170-45963171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs181967824	chr5:45963172-45963173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs548992341	chr5:45963174-45963175	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs532469252	chr5:45963196-45963197	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs10038082	chr5:45963250-45963251	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs534513183	chr5:45963255-45963256	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs147620510	chr5:45963259-45963260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs555448873	chr5:45963266-45963267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs577771815	chr5:45963279-45963280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs142394838	chr5:45963293-45963294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs569044726	chr5:45963300-45963301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs534650532	chr5:45963323-45963324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs553279769	chr5:45963358-45963359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs34004002	chr5:45963367-45963368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs78755399	chr5:45963371-45963372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs556965580	chr5:45963388-45963389	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs573654263	chr5:45963440-45963441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs76980568	chr5:45963444-45963445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs559784334	chr5:45963453-45963454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs575483433	chr5:45963479-45963480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs141412052	chr5:45963492-45963493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs35342784	chr5:45963507-45963508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs4502837	chr5:45963509-45963510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs565397353	chr5:45963596-45963597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs207466024	chr5:45963617-45963618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs112088974	chr5:45963631-45963632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs369024549	chr5:45963633-45963634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs572502875	chr5:45963645-45963646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45951600-45962200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:45963000-45966800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr5:45963200-45968200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr5:45964600-45967800	ZNF genes & repeats	Liver	Liver
5	chr5:45964800-45968000	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr5:45965400-45965600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr5:45966400-45968000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:45966600-45968600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr5:45970000-45972600	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr5:45974600-45975200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr5:45975000-45975800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:45982800-45984800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr5:45983200-45984400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:45984200-45987000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr5:45987000-45991600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:45987200-45987400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr5:45987400-45988200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr5:45988000-45988200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr5:45990400-45999400	ZNF genes & repeats	Liver	Liver
20	chr5:45993000-45998800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:45994000-45994600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:45994200-45997200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr5:45997400-45997600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr5:45998800-45999600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr5:46010200-46013000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr5:46010600-46014400	ZNF genes & repeats	Liver	Liver
27	chr5:46011800-46016800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:46014000-46019000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr5:46016600-46020200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr5:46017400-46018800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr5:46018000-46028600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:46018200-46021800	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr5:46019000-46022600	ZNF genes & repeats	Liver	Liver
34	chr5:46021600-46022000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:46022600-46024000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
36	chr5:46027600-46028000	Active TSS	Fetal Heart	heart
37	chr5:46030000-46030600	Active TSS	Fetal Heart	heart
38	chr5:46033200-46038200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:46033800-46034600	ZNF genes & repeats	Liver	Liver
40	chr5:46035200-46036000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
41	chr5:46039000-46039800	ZNF genes & repeats	Liver	Liver
42	chr5:46041000-46045400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:46042000-46043400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
44	chr5:46042800-46043800	ZNF genes & repeats	Adipose Nuclei	Adipose
45	chr5:46048800-46067200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:46050000-46062400	ZNF genes & repeats	Liver	Liver
47	chr5:46050800-46056000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
48	chr5:46053000-46053600	Active TSS	Right Atrium	heart
49	chr5:46058800-46064400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr5:46061200-46064200	ZNF genes & repeats	Adipose Nuclei	Adipose

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