Variant report

Variant	nsv881090
Chromosome Location	chr5:42254097-42307714
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000065457	chromatin interactions

Extended variants
information (count: 1088 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1088 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554458890	chr5:42260862-42260863	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs566830323	chr5:42260919-42260920	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs371842805	chr5:42260937-42260938	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs552674680	chr5:42260938-42260939	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs77367180	chr5:42260969-42260970	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs192976875	chr5:42261016-42261017	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183212762	chr5:42261100-42261101	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs566385029	chr5:42261123-42261124	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs187759694	chr5:42261164-42261165	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs535148137	chr5:42261166-42261167	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553364383	chr5:42261242-42261243	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs374843852	chr5:42261243-42261244	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs540174648	chr5:42261278-42261279	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571663345	chr5:42261283-42261284	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs191113071	chr5:42261286-42261287	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs563819608	chr5:42261287-42261288	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs115285047	chr5:42261297-42261298	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs544787545	chr5:42261313-42261314	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs149903422	chr5:42263406-42263407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10055579	chr5:42263432-42263433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs551688360	chr5:42263521-42263522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539723409	chr5:42263522-42263523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563413457	chr5:42263627-42263628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530575361	chr5:42263659-42263660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548693070	chr5:42263700-42263701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12520405	chr5:42263728-42263729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs534712886	chr5:42263740-42263741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546693099	chr5:42263750-42263751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566295204	chr5:42263780-42263781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144960651	chr5:42263797-42263798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558472895	chr5:42263844-42263845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576652408	chr5:42263846-42263847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149080810	chr5:42263878-42263879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143113672	chr5:42263914-42263915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555342193	chr5:42263918-42263919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187586022	chr5:42263923-42263924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190968148	chr5:42263940-42263941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541142634	chr5:42263998-42263999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559404586	chr5:42263999-42264000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577795895	chr5:42264051-42264052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577001943	chr5:42264053-42264054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544873502	chr5:42264054-42264055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563641169	chr5:42264056-42264057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530724590	chr5:42264077-42264078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555795372	chr5:42264107-42264108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542861053	chr5:42264112-42264113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560891362	chr5:42264141-42264142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111799314	chr5:42264170-42264171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528059293	chr5:42264181-42264182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546754235	chr5:42264250-42264251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42263400-42266000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:42270400-42271800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:42271800-42274800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:42274800-42275200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:42274800-42275200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr5:42274800-42275200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:42275000-42275200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:42275000-42275400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:42278000-42280000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:42280000-42284600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:42280400-42280600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:42280600-42287600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:42284400-42285600	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr5:42284600-42285000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:42284600-42285600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:42284800-42285400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:42284800-42286800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:42285600-42287200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:42287200-42288000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:42287600-42289800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:42299200-42299400	Enhancers	Adipose Nuclei	Adipose
22	chr5:42300600-42303000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:42300800-42302800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:42301000-42301800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:42301000-42302400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:42301000-42302600	Enhancers	NHDF-Ad	bronchial
27	chr5:42301000-42302800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:42301200-42301600	Enhancers	Adipose Nuclei	Adipose
29	chr5:42301200-42302200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:42301200-42302400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:42301400-42303000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:42301600-42302000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:42301600-42305600	Weak transcription	Adipose Nuclei	Adipose
34	chr5:42301800-42302200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr5:42302200-42302800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr5:42305600-42307000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:42305600-42307200	Enhancers	Adipose Nuclei	Adipose
38	chr5:42307000-42309200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:42307200-42309200	Weak transcription	Adipose Nuclei	Adipose

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