Variant report

Variant	nsv881159
Chromosome Location	chr5:45249604-45406321
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:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:104438340..104439030-chr5:45401914..45402431,2	MCF-7	breast:
2	chr5:45389967..45392520-chr5:45393920..45396887,2	K562	blood:
3	chr5:45292372..45295265-chr5:45301198..45304020,2	MCF-7	breast:
4	chr5:45259723..45261348-chr5:45262944..45264451,2	K562	blood:
5	chr5:45389967..45392520-chr5:45393920..45396887,2	K562	blood:
6	chr5:45292372..45295265-chr5:45301198..45304020,2	MCF-7	breast:
7	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: 2759 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:2759 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10512876	chr5:45249604-45249605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560214202	chr5:45249609-45249610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532135369	chr5:45249642-45249643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554429546	chr5:45249650-45249651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111576252	chr5:45249658-45249659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569511824	chr5:45249703-45249704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73752445	chr5:45249731-45249732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs548900647	chr5:45249759-45249760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201479992	chr5:45249760-45249761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568738497	chr5:45249786-45249787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140835575	chr5:45249787-45249788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188846927	chr5:45249792-45249793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577154484	chr5:45249858-45249859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181313794	chr5:45249873-45249874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62367515	chr5:45249874-45249875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs183990701	chr5:45249897-45249898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575100214	chr5:45249906-45249907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62367516	chr5:45249917-45249918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs560863896	chr5:45249923-45249924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367721496	chr5:45249963-45249964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577224628	chr5:45249983-45249984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577697253	chr5:45250020-45250021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189163338	chr5:45250050-45250051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559925557	chr5:45250063-45250064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532122269	chr5:45250070-45250071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563017585	chr5:45250094-45250095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181543103	chr5:45250102-45250103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530095713	chr5:45250135-45250136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531960611	chr5:45250186-45250187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542278790	chr5:45250278-45250279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548774246	chr5:45250291-45250292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568650329	chr5:45250299-45250300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534260413	chr5:45250323-45250324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548061239	chr5:45250336-45250337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570804996	chr5:45250339-45250340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539774013	chr5:45250342-45250343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556248676	chr5:45250361-45250362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58855279	chr5:45250378-45250379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537670485	chr5:45250381-45250382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554370298	chr5:45250382-45250383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187577724	chr5:45250388-45250389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540196383	chr5:45250431-45250432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554029029	chr5:45250435-45250436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191946898	chr5:45250471-45250472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527992000	chr5:45250472-45250473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12517546	chr5:45250475-45250476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs138208337	chr5:45250476-45250477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541933733	chr5:45250496-45250497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377270582	chr5:45250507-45250508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562187735	chr5:45250524-45250525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45245400-45252400	Weak transcription	Fetal Heart	heart
2	chr5:45251600-45252000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr5:45251600-45252400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:45251800-45254000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:45252000-45253000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:45252400-45253000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:45252400-45253600	Enhancers	Fetal Lung	lung
8	chr5:45252400-45254000	Enhancers	Fetal Heart	heart
9	chr5:45252400-45254200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:45252800-45253600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:45252800-45253800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:45253000-45253600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:45253000-45253800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:45253200-45254000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr5:45253400-45254000	Enhancers	Fetal Intestine Large	intestine
16	chr5:45253600-45254000	Flanking Active TSS	Fetal Lung	lung
17	chr5:45253800-45254000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:45254000-45257200	Weak transcription	Fetal Heart	heart
19	chr5:45254000-45263200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:45257200-45258800	Enhancers	Fetal Heart	heart
21	chr5:45258800-45260000	Weak transcription	Fetal Heart	heart
22	chr5:45259400-45262000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:45260000-45261600	Enhancers	Fetal Heart	heart
24	chr5:45260200-45261600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr5:45261000-45261600	Enhancers	Liver	Liver
26	chr5:45261200-45261600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:45261400-45261800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:45261600-45264200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr5:45262000-45262800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:45262200-45262600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:45262200-45262600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:45262200-45262800	ZNF genes & repeats	Pancreas	Pancrea
33	chr5:45262400-45262600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr5:45262800-45263200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:45263200-45263400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
36	chr5:45263400-45271200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr5:45270200-45272200	Enhancers	Fetal Heart	heart
38	chr5:45271200-45271600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr5:45271200-45271800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr5:45271600-45272000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr5:45272000-45277400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr5:45272200-45273200	Weak transcription	Fetal Heart	heart
43	chr5:45273400-45273600	Enhancers	Fetal Heart	heart
44	chr5:45273400-45273600	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr5:45273400-45273600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr5:45273600-45274800	Enhancers	Liver	Liver
47	chr5:45274000-45275000	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr5:45274800-45275000	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr5:45275000-45276000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr5:45276000-45276400	Enhancers	Rectal Mucosa Donor 29	rectum

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