Variant report

Variant	nsv1034474
Chromosome Location	chr5:45921127-46389261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:68265057..68265577-chr5:46205420..46205943,2	MCF-7	breast:
2	chr1:63102529..63105125-chr5:46100658..46103318,2	MCF-7	breast:
3	chr1:121483702..121485225-chr5:46334811..46336331,2	MCF-7	breast:
4	chr17:57915525..57918399-chr5:46361638..46364174,2	MCF-7	breast:
5	chr1:175202235..175203755-chr5:46204424..46205944,2	MCF-7	breast:

Extended variants
information (count: 30169 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:30169 , 50 per page) page: 1 2 3 4 5 6 7 ... 604

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572210613	chr5:45930007-45930008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs138469626	chr5:45930016-45930017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs540188652	chr5:45930035-45930036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs554514287	chr5:45930041-45930042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs62372025	chr5:45930066-45930067	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs546517454	chr5:45930077-45930078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs563126586	chr5:45930122-45930123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs113115226	chr5:45930132-45930133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs146113763	chr5:45930158-45930159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs562016011	chr5:45930193-45930194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs563579527	chr5:45930194-45930195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs55972050	chr5:45930208-45930209	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs201367841	chr5:45930265-45930266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs373829539	chr5:45930275-45930276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs564133425	chr5:45930276-45930277	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs530723961	chr5:45930281-45930282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs532299757	chr5:45930295-45930296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs372144293	chr5:45930296-45930297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs116647335	chr5:45930300-45930301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs569047898	chr5:45930335-45930336	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs10062641	chr5:45930342-45930343	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs367711216	chr5:45930359-45930360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs548269323	chr5:45930364-45930365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs568022937	chr5:45930369-45930370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs533862785	chr5:45930370-45930371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs143948083	chr5:45930382-45930383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs576887176	chr5:45930383-45930384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs535087801	chr5:45930384-45930385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs556547240	chr5:45930389-45930390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs186744812	chr5:45930392-45930393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs148651026	chr5:45930395-45930396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs562223246	chr5:45930402-45930403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs142051011	chr5:45930412-45930413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs573877844	chr5:45930427-45930428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs541102025	chr5:45930442-45930443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs564172041	chr5:45930446-45930447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs571576048	chr5:45930449-45930450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs533119812	chr5:45930459-45930460	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs190837510	chr5:45930494-45930495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs562593522	chr5:45930495-45930496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs369872175	chr5:45930503-45930504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs371917966	chr5:45930515-45930516	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs73100254	chr5:45930528-45930529	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs375256492	chr5:45930532-45930533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs533903450	chr5:45930540-45930541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs147774809	chr5:45930543-45930544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs570479368	chr5:45930546-45930547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs139734206	chr5:45930557-45930558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs74394566	chr5:45930578-45930579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs111736342	chr5:45930585-45930586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Medulloblastoma	21163964	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:859 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45930000-45931000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:45930200-45930600	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr5:45931000-45933400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:45933400-45933600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:45934200-45935400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr5:45934400-45935000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:45935600-45936200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr5:45936200-45936400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:45942800-45950000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:45942800-45954200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr5:45943000-45943600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr5:45946200-45953200	ZNF genes & repeats	Liver	Liver
13	chr5:45947200-45950000	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr5:45948600-45950000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:45949400-45950800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
16	chr5:45950800-45951000	ZNF genes & repeats	Psoas Muscle	Psoas
17	chr5:45951600-45962200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:45951800-45956800	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr5:45954800-45955400	Active TSS	Right Atrium	heart
20	chr5:45955200-45955400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
21	chr5:45956200-45957800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr5:45956600-45957000	Active TSS	Fetal Heart	heart
23	chr5:45957200-45958400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr5:45959600-45959800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
25	chr5:45960800-45961600	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr5:45963000-45966800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr5:45963200-45968200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr5:45964600-45967800	ZNF genes & repeats	Liver	Liver
29	chr5:45964800-45968000	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr5:45965400-45965600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr5:45966400-45968000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:45966600-45968600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
33	chr5:45970000-45972600	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr5:45974600-45975200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr5:45975000-45975800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:45982800-45984800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
37	chr5:45983200-45984400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:45984200-45987000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
39	chr5:45987000-45991600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:45987200-45987400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
41	chr5:45987400-45988200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr5:45988000-45988200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
43	chr5:45990400-45999400	ZNF genes & repeats	Liver	Liver
44	chr5:45993000-45998800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:45994000-45994600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:45994200-45997200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
47	chr5:45997400-45997600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
48	chr5:45998800-45999600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr5:46010200-46013000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr5:46010600-46014400	ZNF genes & repeats	Liver	Liver

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