Variant report

Variant	nsv597972
Chromosome Location	chr5:45247095-45303672
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:45292372..45295265-chr5:45301198..45304020,2	MCF-7	breast:
2	chr5:45292372..45295265-chr5:45301198..45304020,2	MCF-7	breast:
3	chr5:45259723..45261348-chr5:45262944..45264451,2	K562	blood:
4	chr5:45259723..45261348-chr5:45262944..45264451,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FGF10-4	chr5:45267793-45268115	ENSG00000251117.1
2	lnc-FGF10-4	chr5:45266826-45266920	ENSG00000251117.1

No data

Extended variants
information (count: 1760 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1760 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12515179	chr5:45247095-45247096	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145330944	chr5:45247123-45247124	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115132575	chr5:45247130-45247131	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187037046	chr5:45247144-45247145	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572117294	chr5:45247145-45247146	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148808094	chr5:45247205-45247206	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557576005	chr5:45247238-45247239	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577631277	chr5:45247249-45247250	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142455502	chr5:45247265-45247266	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191154233	chr5:45247288-45247289	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529429049	chr5:45247292-45247293	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151313756	chr5:45247308-45247309	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559574033	chr5:45247313-45247314	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141967789	chr5:45247336-45247337	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182471150	chr5:45247340-45247341	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188441473	chr5:45247341-45247342	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145732733	chr5:45247346-45247347	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531062460	chr5:45247379-45247380	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551078859	chr5:45247397-45247398	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569905709	chr5:45247403-45247404	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147803904	chr5:45247424-45247425	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377631066	chr5:45247425-45247426	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576462717	chr5:45247429-45247430	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534335816	chr5:45247437-45247438	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141207761	chr5:45247438-45247439	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544568857	chr5:45247452-45247453	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537181138	chr5:45247462-45247463	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191641219	chr5:45247470-45247471	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377013327	chr5:45247514-45247515	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150359027	chr5:45247520-45247521	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542774445	chr5:45247545-45247546	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559638248	chr5:45247565-45247566	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543474817	chr5:45247570-45247571	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368988097	chr5:45247585-45247586	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370883025	chr5:45247617-45247618	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573456828	chr5:45247637-45247638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182392165	chr5:45247717-45247718	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565315711	chr5:45247720-45247721	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138031450	chr5:45247723-45247724	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116667419	chr5:45247783-45247784	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10155564	chr5:45247865-45247866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561319418	chr5:45247902-45247903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372637845	chr5:45247909-45247910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113397089	chr5:45247912-45247913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111730896	chr5:45247921-45247922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114313865	chr5:45247946-45247947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562878149	chr5:45248009-45248010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113285736	chr5:45248012-45248013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72759954	chr5:45248014-45248015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551367895	chr5:45248029-45248030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45245400-45252400	Weak transcription	Fetal Heart	heart
2	chr5:45247000-45247800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:45247800-45248200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:45251600-45252000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr5:45251600-45252400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:45251800-45254000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:45252000-45253000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:45252400-45253000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:45252400-45253600	Enhancers	Fetal Lung	lung
10	chr5:45252400-45254000	Enhancers	Fetal Heart	heart
11	chr5:45252400-45254200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:45252800-45253600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:45252800-45253800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:45253000-45253600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:45253000-45253800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:45253200-45254000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr5:45253400-45254000	Enhancers	Fetal Intestine Large	intestine
18	chr5:45253600-45254000	Flanking Active TSS	Fetal Lung	lung
19	chr5:45253800-45254000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:45254000-45257200	Weak transcription	Fetal Heart	heart
21	chr5:45254000-45263200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:45257200-45258800	Enhancers	Fetal Heart	heart
23	chr5:45258800-45260000	Weak transcription	Fetal Heart	heart
24	chr5:45259400-45262000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:45260000-45261600	Enhancers	Fetal Heart	heart
26	chr5:45260200-45261600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr5:45261000-45261600	Enhancers	Liver	Liver
28	chr5:45261200-45261600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr5:45261400-45261800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr5:45261600-45264200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:45262000-45262800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:45262200-45262600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:45262200-45262600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:45262200-45262800	ZNF genes & repeats	Pancreas	Pancrea
35	chr5:45262400-45262600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr5:45262800-45263200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:45263200-45263400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
38	chr5:45263400-45271200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr5:45270200-45272200	Enhancers	Fetal Heart	heart
40	chr5:45271200-45271600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr5:45271200-45271800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr5:45271600-45272000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr5:45272000-45277400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr5:45272200-45273200	Weak transcription	Fetal Heart	heart
45	chr5:45273400-45273600	Enhancers	Fetal Heart	heart
46	chr5:45273400-45273600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr5:45273400-45273600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr5:45273600-45274800	Enhancers	Liver	Liver
49	chr5:45274000-45275000	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr5:45274800-45275000	Enhancers	Rectal Mucosa Donor 29	rectum

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