Variant report

Variant	nsv830280
Chromosome Location	chr5:45067773-45250757
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:5)
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	chr5:45126509..45127120-chr5:45135100..45135681,2	K562	blood:
2	chr16:3076387..3078714-chr5:45193841..45195630,2	MCF-7	breast:
3	chr5:45096908..45099179-chr5:45099441..45102408,2	MCF-7	breast:
4	chr5:45189744..45191464-chr5:45191625..45193258,2	MCF-7	breast:
5	chr5:45096908..45099179-chr5:45099441..45102408,2	MCF-7	breast:
6	chr5:44356260..44358499-chr5:45223439..45226183,2	K562	blood:
7	chr5:45189744..45191464-chr5:45191625..45193258,2	MCF-7	breast:
8	chr5:45228553..45229390-chr6:23065553..23066212,2	MCF-7	breast:
9	chr5:45126509..45127120-chr5:45135100..45135681,2	K562	blood:
10	chr5:45232284..45234490-chr5:45416046..45418115,2	MCF-7	breast:
11	chr20:20574263..20574997-chr5:45153290..45154223,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPS30-11	chr5:45214560-45217161	NONHSAT101357
2	lnc-MRPS30-4	chr5:45227480-45227662	XLOC_004375
3	lnc-MRPS30-4	chr5:45228193-45228451	XLOC_004375
4	lnc-MRPS30-3	chr5:45098008-45098749	XLOC_004374
5	lnc-MRPS30-11	chr5:45212601-45212751	NONHSAT101357

No data

Extended variants
information (count: 3054 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:3054 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554099933	chr5:45068812-45068813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577453730	chr5:45068826-45068827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138563345	chr5:45068907-45068908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141464320	chr5:45068950-45068951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575984331	chr5:45068954-45068955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192205163	chr5:45069041-45069042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562174170	chr5:45069089-45069090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34539655	chr5:45069099-45069100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527803950	chr5:45069100-45069101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374599942	chr5:45069108-45069109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147004823	chr5:45069111-45069112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184366111	chr5:45069112-45069113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532438233	chr5:45069116-45069117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541852743	chr5:45069126-45069127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534886125	chr5:45069135-45069136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570616094	chr5:45069136-45069137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75273363	chr5:45069143-45069144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185415662	chr5:45074620-45074621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570658649	chr5:45074631-45074632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13183434	chr5:45074633-45074634	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs112818833	chr5:45074644-45074645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376176796	chr5:45074661-45074662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149382737	chr5:45074668-45074669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144720733	chr5:45074728-45074729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551151859	chr5:45074756-45074757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575519174	chr5:45074760-45074761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530695481	chr5:45075457-45075458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558231852	chr5:45075532-45075533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550522532	chr5:45075564-45075565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368352836	chr5:45093600-45093601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140815952	chr5:45093622-45093623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374751065	chr5:45093623-45093624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532939314	chr5:45093648-45093649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7719864	chr5:45093650-45093651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201137472	chr5:45093651-45093652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111624124	chr5:45093652-45093653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201600073	chr5:45093664-45093665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529197817	chr5:45093671-45093672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189055902	chr5:45093694-45093695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554323287	chr5:45093724-45093725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192373287	chr5:45093729-45093730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182319931	chr5:45093735-45093736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs386687777	chr5:45093792-45093793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141817184	chr5:45093822-45093823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144690430	chr5:45093847-45093848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148502440	chr5:45093915-45093916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs367865285	chr5:45093929-45093930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537628955	chr5:45093931-45093932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528228376	chr5:45093940-45093941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530572575	chr5:45094600-45094601	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45068800-45069200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:45074600-45074800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr5:45075400-45075600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr5:45093600-45094000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:45094600-45096000	Enhancers	Fetal Intestine Large	intestine
6	chr5:45094600-45096000	Enhancers	Fetal Intestine Small	intestine
7	chr5:45094800-45095000	Weak transcription	Fetal Heart	heart
8	chr5:45095200-45095400	Enhancers	Fetal Heart	heart
9	chr5:45095400-45095600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:45097400-45098200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:45097400-45098400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:45097400-45098400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:45097400-45098400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:45097600-45098200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr5:45097800-45098200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:45103400-45109400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:45107200-45109200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr5:45107600-45108000	Enhancers	Fetal Heart	heart
19	chr5:45108000-45110800	Weak transcription	Fetal Heart	heart
20	chr5:45108800-45109600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:45109000-45110000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr5:45109200-45109400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:45109200-45109600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr5:45109200-45109800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr5:45109200-45109800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:45109200-45110000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr5:45109200-45110200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:45109200-45113000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr5:45109200-45114400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:45109400-45109600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr5:45109400-45110400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr5:45109400-45110600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr5:45109400-45111600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:45109600-45109800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr5:45109600-45110600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr5:45109600-45111200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:45109600-45111400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:45109800-45110000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr5:45109800-45110400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr5:45109800-45110400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr5:45110000-45110200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr5:45110000-45110400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr5:45110000-45111000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:45110000-45111400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr5:45110200-45110800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr5:45110200-45111200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr5:45110400-45110800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr5:45110400-45110800	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr5:45110400-45111400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr5:45110400-45113000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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