Variant report

Variant	nsv880559
Chromosome Location	chr5:27478198-27632765
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:18)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:27560772..27563762-chr5:27570947..27572476,2	MCF-7	breast:
2	chr5:27483622..27485658-chr5:27500054..27501684,2	K562	blood:
3	chr5:27483953..27485836-chr5:27487380..27490659,3	K562	blood:
4	chr13:92004278..92006382-chr5:27545617..27547117,2	K562	blood:
5	chr5:27606222..27608157-chr5:27609171..27611817,2	MCF-7	breast:
6	chr5:27600351..27602569-chr5:27603495..27605126,2	K562	blood:
7	chr5:27560772..27563762-chr5:27570947..27572476,2	MCF-7	breast:
8	chr5:27619372..27621025-chr5:27624606..27626826,2	K562	blood:
9	chr5:27483953..27486391-chr5:27488039..27490659,3	K562	blood:
10	chr5:27619372..27621025-chr5:27624606..27626826,2	K562	blood:
11	chr5:27530537..27533471-chr5:27821180..27823240,2	K562	blood:
12	chr5:27483953..27485836-chr5:27487380..27490659,3	K562	blood:
13	chr5:27600351..27602569-chr5:27603495..27605126,2	K562	blood:
14	chr5:27483622..27485658-chr5:27500054..27501684,2	K562	blood:
15	chr5:27483953..27486391-chr5:27488039..27490659,3	K562	blood:
16	chr5:27470415..27473388-chr5:27486185..27488435,2	K562	blood:
17	chr5:27606222..27608157-chr5:27609171..27611817,2	MCF-7	breast:
18	chr5:27286321..27288328-chr5:27551307..27553852,2	MCF-7	breast:

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf17-8	chr5:27494342-27494425	ENSG00000250337
2	lnc-C5orf17-8	chr5:27494226-27494425	ENSG00000250337
3	lnc-C5orf17-8	chr5:27489389-27489493	ENSG00000250337
4	lnc-C5orf17-8	chr5:27496056-27496274	XLOC_004323
5	lnc-C5orf17-14	chr5:27511399-27511559	ucscGeneNc_uc003jgv_1
6	lnc-C5orf17-14	chr5:27520790-27521692	ucscGeneNc_uc003jgv_1
7	lnc-C5orf17-8	chr5:27494342-27494425	ENSG00000250337
8	lnc-C5orf17-8	chr5:27485033-27487999	XLOC_004323
9	lnc-C5orf17-8	chr5:27485033-27485136	ENSG00000250337
10	lnc-C5orf17-9	chr5:27570754-27570955	XLOC_004324
11	lnc-C5orf17-8	chr5:27489389-27489493	ENSG00000250337
12	lnc-C5orf17-8	chr5:27485033-27485136	ENSG00000250337
13	lnc-C5orf17-14	chr5:27508148-27508383	ucscGeneNc_uc003jgv_1
14	lnc-C5orf17-13	chr5:27497127-27497768	NONHSAT100808
15	lnc-C5orf17-9	chr5:27574964-27575000	XLOC_004324
16	lnc-C5orf17-8	chr5:27494420-27494442	XLOC_004323

No data

Variant related genes	Relation type
ENSG00000250337	chromatin interactions
TERF2	miRNA target sites
CKAP5	miRNA target sites
RANBP10	miRNA target sites
SIRT1	miRNA target sites
NUDT12	miRNA target sites

Extended variants
information (count: 1850 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1850 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12655436	chr5:27478198-27478199	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574541841	chr5:27478218-27478219	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs535451623	chr5:27478231-27478232	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs557184173	chr5:27478268-27478269	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs376933547	chr5:27478273-27478274	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs141615367	chr5:27478278-27478279	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs368729897	chr5:27478283-27478284	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs534486632	chr5:27478286-27478287	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs192778215	chr5:27478297-27478298	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs182754587	chr5:27478317-27478318	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs151265354	chr5:27478323-27478324	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs540973662	chr5:27478328-27478329	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs562358259	chr5:27478339-27478340	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs115242380	chr5:27478366-27478367	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs369260133	chr5:27478399-27478400	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs550545703	chr5:27478439-27478440	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs542415554	chr5:27478441-27478442	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs562463292	chr5:27478443-27478444	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs79653184	chr5:27478462-27478463	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs186978382	chr5:27478497-27478498	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs555289758	chr5:27478504-27478505	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs78625802	chr5:27478525-27478526	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs192484298	chr5:27478542-27478543	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs184943622	chr5:27478546-27478547	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs188875618	chr5:27478559-27478560	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs567185450	chr5:27478569-27478570	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs535459612	chr5:27478580-27478581	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs557296824	chr5:27478585-27478586	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs556012502	chr5:27478590-27478591	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs569269208	chr5:27478634-27478635	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs539958313	chr5:27478708-27478709	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs373037493	chr5:27478807-27478808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140451931	chr5:27479023-27479024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573516638	chr5:27479037-27479038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540787895	chr5:27479043-27479044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556098362	chr5:27479059-27479060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574356502	chr5:27479081-27479082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193173568	chr5:27479118-27479119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562535489	chr5:27479204-27479205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184610176	chr5:27479249-27479250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377366642	chr5:27479285-27479286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189781625	chr5:27479306-27479307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559984429	chr5:27479321-27479322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527494744	chr5:27479329-27479330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544382185	chr5:27479387-27479388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181367907	chr5:27479404-27479405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183608686	chr5:27479432-27479433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188198853	chr5:27479438-27479439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367912256	chr5:27479477-27479478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114864485	chr5:27479515-27479516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
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
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
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	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
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	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	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27474400-27478600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr5:27474600-27478800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:27474800-27478200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr5:27475000-27478200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:27475200-27478200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
6	chr5:27475600-27486800	Strong transcription	A549	lung
7	chr5:27477000-27478600	Strong transcription	Hela-S3	cervix
8	chr5:27477000-27478800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:27477400-27478800	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:27477400-27480000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:27477600-27480000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:27477800-27478800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:27477800-27481200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:27478000-27478200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:27478000-27478600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:27478000-27478800	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr5:27478000-27478800	Strong transcription	HepG2	liver
18	chr5:27478000-27479600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:27478000-27479800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:27478000-27479800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:27478000-27480200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:27478000-27483600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:27478000-27497400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:27478200-27479000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:27478600-27478800	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr5:27478600-27479800	Weak transcription	Hela-S3	cervix
27	chr5:27478600-27480400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr5:27478800-27479400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:27478800-27479400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:27478800-27480400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr5:27478800-27485400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr5:27478800-27487400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:27478800-27488000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:27478800-27495200	Weak transcription	HepG2	liver
35	chr5:27479400-27480000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:27479400-27482600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:27479800-27480200	Strong transcription	Hela-S3	cervix
38	chr5:27479800-27485400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr5:27480000-27480200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:27480000-27480400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr5:27480000-27480600	Enhancers	Fetal Intestine Small	intestine
42	chr5:27480000-27495800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:27480200-27480400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr5:27480200-27484200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:27480200-27494400	Weak transcription	Hela-S3	cervix
46	chr5:27480400-27480600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr5:27480400-27481000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr5:27480600-27480800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr5:27482600-27487600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr5:27486800-27488800	Weak transcription	A549	lung

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