Variant report

Variant	nsv880292
Chromosome Location	chr5:27560226-27846167
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:20)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:27619372..27621025-chr5:27624606..27626826,2	K562	blood:
2	chr5:27600351..27602569-chr5:27603495..27605126,2	K562	blood:
3	chr5:27703201..27705490-chr5:27706279..27707941,2	MCF-7	breast:
4	chr5:27703201..27705490-chr5:27706279..27707941,2	MCF-7	breast:
5	chr5:27735388..27737759-chr5:27739133..27741534,2	K562	blood:
6	chr5:27757132..27759985-chr5:27763634..27765470,3	K562	blood:
7	chr5:27757132..27759985-chr5:27763634..27765470,3	K562	blood:
8	chr5:27619372..27621025-chr5:27624606..27626826,2	K562	blood:
9	chr5:27790095..27791782-chr5:27794379..27796050,2	K562	blood:
10	chr5:27560772..27563762-chr5:27570947..27572476,2	MCF-7	breast:
11	chr5:27790095..27791782-chr5:27794379..27796050,2	K562	blood:
12	chr5:27530537..27533471-chr5:27821180..27823240,2	K562	blood:
13	chr5:27662645..27663246-chr6:2453687..2454350,2	MCF-7	breast:
14	chr5:27738038..27740601-chr5:27744969..27746907,2	K562	blood:
15	chr5:27560772..27563762-chr5:27570947..27572476,2	MCF-7	breast:
16	chr5:27606222..27608157-chr5:27609171..27611817,2	MCF-7	breast:
17	chr5:27738038..27740601-chr5:27744969..27746907,2	K562	blood:
18	chr5:27735388..27737759-chr5:27739133..27741534,2	K562	blood:
19	chr5:27606222..27608157-chr5:27609171..27611817,2	MCF-7	breast:
20	chr5:27600351..27602569-chr5:27603495..27605126,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf17-9	chr5:27574964-27575000	XLOC_004324
2	lnc-C5orf17-9	chr5:27570754-27570955	XLOC_004324

No data

Extended variants
information (count: 2012 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2012 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10036200	chr5:27560226-27560227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574231548	chr5:27560230-27560231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374310091	chr5:27560238-27560239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181144937	chr5:27560263-27560264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28495586	chr5:27560276-27560277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs28477502	chr5:27560277-27560278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs10044686	chr5:27560287-27560288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs7719625	chr5:27560290-27560291	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs527519594	chr5:27560294-27560295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548888257	chr5:27560317-27560318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186435439	chr5:27560347-27560348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78464427	chr5:27560365-27560366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374760034	chr5:27560388-27560389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549630364	chr5:27560473-27560474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10036269	chr5:27560541-27560542	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs539444506	chr5:27560567-27560568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535493601	chr5:27560581-27560582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573241897	chr5:27560621-27560622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191287367	chr5:27560622-27560623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555706797	chr5:27560623-27560624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs137890048	chr5:27560628-27560629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544933362	chr5:27560733-27560734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556846775	chr5:27560754-27560755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553122749	chr5:27560758-27560759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577756826	chr5:27560791-27560792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116580443	chr5:27560840-27560841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573102733	chr5:27560852-27560853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12659060	chr5:27560856-27560857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs182294796	chr5:27560877-27560878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185484359	chr5:27560878-27560879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190880072	chr5:27560916-27560917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542677061	chr5:27560933-27560934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560941838	chr5:27560967-27560968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117043899	chr5:27560977-27560978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549712218	chr5:27560982-27560983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571198494	chr5:27561022-27561023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183390336	chr5:27561034-27561035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551464969	chr5:27561038-27561039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566832733	chr5:27561040-27561041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142302873	chr5:27561183-27561184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188268098	chr5:27561212-27561213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377598850	chr5:27561217-27561218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538434713	chr5:27561231-27561232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556934909	chr5:27561235-27561236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs578245579	chr5:27561270-27561271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs193171785	chr5:27561279-27561280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183577903	chr5:27561283-27561284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188179884	chr5:27561287-27561288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542366294	chr5:27561318-27561319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561035243	chr5:27561330-27561331	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27559800-27561000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:27561000-27561400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:27561000-27561600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr5:27573400-27574200	Enhancers	Dnd41	blood
5	chr5:27592000-27592400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:27592000-27592800	Enhancers	NH-A	brain
7	chr5:27592400-27593200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:27592400-27593600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:27593200-27593400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:27593400-27594400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:27594400-27594600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:27619400-27620400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:27620000-27620400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:27620200-27620400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:27623800-27626200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:27652200-27652400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:27652400-27659600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:27659600-27659800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:27688400-27689200	Enhancers	Hela-S3	cervix
20	chr5:27688800-27689200	Enhancers	Fetal Brain Female	brain
21	chr5:27689000-27689200	Enhancers	Fetal Kidney	kidney
22	chr5:27697000-27697200	Enhancers	Hela-S3	cervix
23	chr5:27697200-27699000	Weak transcription	Hela-S3	cervix
24	chr5:27699000-27700800	Enhancers	Hela-S3	cervix
25	chr5:27700800-27701200	Weak transcription	Hela-S3	cervix
26	chr5:27701200-27702000	Enhancers	Hela-S3	cervix
27	chr5:27701800-27702000	Enhancers	A549	lung
28	chr5:27702000-27702400	Flanking Active TSS	A549	lung
29	chr5:27702000-27702600	Enhancers	Osteobl	bone
30	chr5:27702000-27703200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr5:27702000-27703200	Flanking Active TSS	Hela-S3	cervix
32	chr5:27702000-27703800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:27702200-27703200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr5:27702200-27703200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr5:27702200-27703200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:27702200-27703200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr5:27702200-27703400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr5:27702200-27703600	Enhancers	NH-A	brain
39	chr5:27702400-27702600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr5:27702400-27702600	Active TSS	A549	lung
41	chr5:27702400-27703400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:27702600-27702800	Flanking Active TSS	A549	lung
43	chr5:27702600-27703000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:27702600-27703000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:27702600-27703000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:27702600-27703000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr5:27702600-27703000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr5:27702600-27703000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr5:27702600-27703200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr5:27702600-27703200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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