Variant report

Variant	nsv1018263
Chromosome Location	chr5:46209287-46313629
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6516 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:6516 , 50 per page) page: 1 2 3 4 5 6 7 ... 131

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567112975	chr5:46209290-46209291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs370014939	chr5:46209318-46209319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs188523491	chr5:46209345-46209346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs139035879	chr5:46209369-46209370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs7293425	chr5:46209378-46209379	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs554675904	chr5:46209383-46209384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs185211813	chr5:46209423-46209424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs190959693	chr5:46209438-46209439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs182710629	chr5:46209468-46209469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs187356943	chr5:46209480-46209481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs111252991	chr5:46209483-46209484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs577067533	chr5:46209486-46209487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs545822996	chr5:46209501-46209502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs565269075	chr5:46209513-46209514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs192127725	chr5:46209544-46209545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs544222913	chr5:46209545-46209546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs371321541	chr5:46209561-46209562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs112102769	chr5:46209570-46209571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs542769973	chr5:46209587-46209588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs182726274	chr5:46209604-46209605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs560848689	chr5:46209611-46209612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs368198969	chr5:46209637-46209638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs564098730	chr5:46209640-46209641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs140660143	chr5:46209641-46209642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs528126366	chr5:46209656-46209657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs532824910	chr5:46209660-46209661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs552621005	chr5:46209669-46209670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs572881536	chr5:46209700-46209701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs112448581	chr5:46209726-46209727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs187427936	chr5:46209730-46209731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs201529914	chr5:46209735-46209736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs569591868	chr5:46209736-46209737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs539853104	chr5:46209738-46209739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs554612398	chr5:46209759-46209760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs568113151	chr5:46209816-46209817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs191562261	chr5:46209835-46209836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs553925190	chr5:46209860-46209861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs372037429	chr5:46209877-46209878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs533171549	chr5:46209906-46209907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs148208885	chr5:46209936-46209937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs182453543	chr5:46209940-46209941	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs532323072	chr5:46209952-46209953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs34532845	chr5:46209970-46209971	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs187148112	chr5:46209976-46209977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs544160449	chr5:46209987-46209988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs560949864	chr5:46210000-46210001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs574590624	chr5:46210020-46210021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs192676951	chr5:46210021-46210022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs540406311	chr5:46210027-46210028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs74503393	chr5:46210028-46210029	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
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
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
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46208000-46210400	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr5:46208600-46211000	ZNF genes & repeats	Liver	Liver
3	chr5:46210400-46211200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr5:46212200-46216200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr5:46214400-46232200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:46218000-46218200	ZNF genes & repeats	HepG2	liver
7	chr5:46218000-46221400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr5:46219200-46220600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr5:46220000-46223800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr5:46220800-46223600	ZNF genes & repeats	Psoas Muscle	Psoas
11	chr5:46220800-46224000	ZNF genes & repeats	Liver	Liver
12	chr5:46221600-46224000	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr5:46228600-46233000	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr5:46228800-46233200	ZNF genes & repeats	Liver	Liver
15	chr5:46229000-46233200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr5:46229200-46232000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr5:46229600-46232400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr5:46232800-46233600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:46233800-46238400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr5:46235400-46238000	ZNF genes & repeats	Liver	Liver
21	chr5:46235400-46245400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:46235800-46243600	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr5:46238600-46239200	Active TSS	Aorta	Aorta
24	chr5:46240000-46240400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
25	chr5:46241200-46246000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr5:46241800-46246600	ZNF genes & repeats	Liver	Liver
27	chr5:46243000-46244200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr5:46245400-46246000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr5:46245800-46246600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
30	chr5:46246000-46247000	ZNF genes & repeats	Adipose Nuclei	Adipose
31	chr5:46246400-46246800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
32	chr5:46248800-46249000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
33	chr5:46248800-46249200	Active TSS	Right Atrium	heart
34	chr5:46248800-46259400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:46253800-46261000	ZNF genes & repeats	Liver	Liver
36	chr5:46259600-46260800	ZNF genes & repeats	Adipose Nuclei	Adipose
37	chr5:46263200-46264800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
38	chr5:46266000-46268200	ZNF genes & repeats	Liver	Liver
39	chr5:46266200-46266600	ZNF genes & repeats	Brain Anterior Caudate	brain
40	chr5:46266200-46269400	ZNF genes & repeats	Adipose Nuclei	Adipose
41	chr5:46266200-46270400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:46268400-46269200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:46269600-46270200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
44	chr5:46276600-46282600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr5:46278600-46281200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
46	chr5:46279400-46283000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
47	chr5:46279600-46285000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:46280000-46280800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:46280200-46280600	ZNF genes & repeats	Adipose Nuclei	Adipose
50	chr5:46281400-46284600	ZNF genes & repeats	Adipose Nuclei	Adipose

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