Variant report

Variant	nsv462129
Chromosome Location	chr5:44876288-44916789
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:44808741..44809414-chr5:44881160..44882057,2	Hela-S3	cervix:
2	chr5:44870877..44873742-chr5:44878688..44880563,2	K562	blood:
3	chr5:43484327..43484850-chr5:44876210..44877157,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000112996	chromatin interactions
ENSG00000251141	chromatin interactions

Extended variants
information (count: 913 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:913 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4412123	chr5:44876288-44876289	Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560897465	chr5:44876305-44876306	Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs529799240	chr5:44876330-44876331	Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs186519955	chr5:44876341-44876342	Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs142118548	chr5:44876378-44876379	Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs538803908	chr5:44876388-44876389	Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs538869204	chr5:44876438-44876439	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs552800475	chr5:44876442-44876443	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs569230425	chr5:44876492-44876493	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs4866783	chr5:44876507-44876508	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs151157049	chr5:44876535-44876536	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs557321376	chr5:44876572-44876573	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs534293618	chr5:44876575-44876576	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs35268247	chr5:44876598-44876599	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs553974579	chr5:44876623-44876624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572955605	chr5:44876630-44876631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544893625	chr5:44876634-44876635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34670237	chr5:44876643-44876644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565151158	chr5:44876665-44876666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575589898	chr5:44876700-44876701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112878175	chr5:44876707-44876708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553763368	chr5:44876722-44876723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201180654	chr5:44876729-44876730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199687223	chr5:44876732-44876733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191324191	chr5:44876767-44876768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555041977	chr5:44876770-44876771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546628667	chr5:44876789-44876790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560006810	chr5:44876791-44876792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532711340	chr5:44876802-44876803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557814633	chr5:44876887-44876888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181858569	chr5:44876924-44876925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187027991	chr5:44876973-44876974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538138213	chr5:44877056-44877057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548515981	chr5:44877112-44877113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568065162	chr5:44877150-44877151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576599201	chr5:44877175-44877176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537649165	chr5:44877198-44877199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74499842	chr5:44877274-44877275	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554207234	chr5:44877409-44877410	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145435369	chr5:44877469-44877470	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539952183	chr5:44877548-44877549	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558771207	chr5:44877549-44877550	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557348473	chr5:44877551-44877552	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372868407	chr5:44877568-44877569	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190522020	chr5:44877627-44877628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146526110	chr5:44877658-44877659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547168745	chr5:44877678-44877679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183375912	chr5:44877680-44877681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13184849	chr5:44877691-44877692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs141112622	chr5:44877969-44877970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
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
Bladder cancer	21909424	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
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	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
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	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

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44875000-44876400	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr5:44875000-44876400	Enhancers	HUVEC	blood vessel
3	chr5:44875000-44877000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:44875200-44876600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:44875800-44876400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:44875800-44876400	Flanking Active TSS	Hela-S3	cervix
7	chr5:44876000-44876400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr5:44876000-44876400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr5:44876000-44876400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr5:44876000-44876400	Flanking Active TSS	NH-A	brain
11	chr5:44876000-44876600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:44876000-44876600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:44876000-44877200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:44876200-44876600	Enhancers	A549	lung
15	chr5:44876200-44876600	ZNF genes & repeats	GM12878-XiMat	blood
16	chr5:44876200-44877000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:44876200-44877200	Enhancers	HMEC	breast
18	chr5:44876200-44877400	Enhancers	NHEK	skin
19	chr5:44876400-44876600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr5:44876400-44876800	Enhancers	NH-A	brain
21	chr5:44876400-44877200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:44876400-44877200	Enhancers	Hela-S3	cervix
23	chr5:44876400-44878800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:44876600-44880400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:44876600-44881400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr5:44877000-44886200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:44877200-44877600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
28	chr5:44877200-44878800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:44878800-44880000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:44878800-44880000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr5:44880400-44880600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:44880600-44881200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:44881000-44881600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:44881200-44881400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:44881200-44881600	Active TSS	A549	lung
36	chr5:44881400-44881800	Enhancers	Liver	Liver
37	chr5:44881400-44881800	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr5:44881600-44882000	Enhancers	A549	lung
39	chr5:44881800-44882000	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr5:44884200-44884600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:44885000-44885800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:44885600-44886400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr5:44885600-44886400	Enhancers	NHEK	skin
44	chr5:44885600-44886800	Enhancers	GM12878-XiMat	blood
45	chr5:44886000-44886400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr5:44886000-44886400	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr5:44886200-44886400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:44897600-44898200	Enhancers	GM12878-XiMat	blood
49	chr5:44898200-44900200	Weak transcription	GM12878-XiMat	blood
50	chr5:44898800-44899200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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