Variant report

Variant	nsv880518
Chromosome Location	chr5:42231896-42375243
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:42272928..42275449-chr5:42293817..42296582,2	K562	blood:
2	chr3:194992469..194994554-chr5:42297852..42299758,2	MCF-7	breast:
3	chr5:42272928..42275449-chr5:42292455..42296582,3	K562	blood:
4	chr5:42303119..42305812-chr5:42307822..42309743,2	MCF-7	breast:
5	chr5:42303119..42305812-chr5:42307822..42309743,2	MCF-7	breast:
6	chr16:75656853..75657363-chr5:42260815..42261315,2	MCF-7	breast:
7	chr5:42275847..42277398-chr5:42279299..42281970,2	K562	blood:
8	chr5:42272147..42275776-chr5:42281474..42285473,4	K562	blood:
9	chr5:42275847..42277398-chr5:42279299..42281970,2	K562	blood:
10	chr5:42370907..42372657-chr5:42372829..42374806,2	K562	blood:
11	chr5:42272147..42275776-chr5:42281474..42285473,4	K562	blood:
12	chr5:42272928..42275449-chr5:42293817..42296582,2	K562	blood:
13	chr5:42272928..42275449-chr5:42292455..42296582,3	K562	blood:
14	chr5:42370907..42372657-chr5:42372829..42374806,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEPP1-2	chr5:42374369-42374527	XLOC_004801
2	lnc-SEPP1-2	chr5:42318256-42318330	XLOC_004801

No data

Variant related genes	Relation type
ENSG00000065457	chromatin interactions

Extended variants
information (count: 2417 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:2417 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540114099	chr5:42234026-42234027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566352289	chr5:42234035-42234036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200500821	chr5:42234037-42234038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186439028	chr5:42234063-42234064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370367831	chr5:42234069-42234070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139917786	chr5:42234080-42234081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371042439	chr5:42234100-42234101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373717079	chr5:42234112-42234113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558525853	chr5:42234128-42234129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142181962	chr5:42234139-42234140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546163180	chr5:42234151-42234152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116339437	chr5:42234155-42234156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573786589	chr5:42234219-42234220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540819289	chr5:42234234-42234235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376384688	chr5:42234278-42234279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148533343	chr5:42234285-42234286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377136579	chr5:42234286-42234287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs151199392	chr5:42234327-42234328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577480187	chr5:42234336-42234337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544638906	chr5:42234351-42234352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562921292	chr5:42234361-42234362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs118139008	chr5:42234365-42234366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549072206	chr5:42234510-42234511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199621639	chr5:42234529-42234530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140371832	chr5:42234545-42234546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529515075	chr5:42234590-42234591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547644555	chr5:42234597-42234598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72750875	chr5:42234621-42234622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540118125	chr5:42234679-42234680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115703617	chr5:42234741-42234742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570053754	chr5:42234749-42234750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111250216	chr5:42234777-42234778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140730899	chr5:42234809-42234810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553894841	chr5:42234818-42234819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576452476	chr5:42234833-42234834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150377044	chr5:42234857-42234858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574457605	chr5:42234889-42234890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534831718	chr5:42234908-42234909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541949894	chr5:42234929-42234930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559914685	chr5:42234940-42234941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552732931	chr5:42234975-42234976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189486532	chr5:42234976-42234977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562090419	chr5:42235063-42235064	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544894241	chr5:42235075-42235076	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563202670	chr5:42235089-42235090	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542032809	chr5:42235093-42235094	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575198672	chr5:42235114-42235115	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs180709079	chr5:42235117-42235118	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561056232	chr5:42235150-42235151	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147656940	chr5:42235153-42235154	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	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
Non-small cell lung cancer	19010865	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
Prostate cancer	18632612	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	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
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Hepatocellular carcinoma	18929564	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42234000-42235000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:42234600-42237400	Enhancers	Adipose Nuclei	Adipose
3	chr5:42234800-42236400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:42235000-42235400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:42235200-42236400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:42235400-42237600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:42236000-42236400	Enhancers	Right Atrium	heart
8	chr5:42237400-42238000	Weak transcription	Adipose Nuclei	Adipose
9	chr5:42237600-42242000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:42238000-42238600	Enhancers	Adipose Nuclei	Adipose
11	chr5:42238600-42242400	Weak transcription	Adipose Nuclei	Adipose
12	chr5:42242000-42242400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:42242200-42242800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:42242400-42243000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:42242400-42244200	Enhancers	Adipose Nuclei	Adipose
16	chr5:42242800-42243000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:42243000-42243600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:42243000-42243600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:42243200-42243600	Enhancers	Fetal Muscle Leg	muscle
20	chr5:42243600-42243800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:42243600-42243800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:42243800-42244000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:42243800-42244600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:42263400-42266000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:42270400-42271800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:42271800-42274800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:42274800-42275200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr5:42274800-42275200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr5:42274800-42275200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr5:42275000-42275200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:42275000-42275400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr5:42278000-42280000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:42280000-42284600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:42280400-42280600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:42280600-42287600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:42284400-42285600	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr5:42284600-42285000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr5:42284600-42285600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:42284800-42285400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr5:42284800-42286800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:42285600-42287200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:42287200-42288000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:42287600-42289800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr5:42299200-42299400	Enhancers	Adipose Nuclei	Adipose
45	chr5:42300600-42303000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:42300800-42302800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:42301000-42301800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr5:42301000-42302400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:42301000-42302600	Enhancers	NHDF-Ad	bronchial
50	chr5:42301000-42302800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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