Variant report

Variant	nsv881080
Chromosome Location	chr5:27699870-27785156
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:27757132..27759985-chr5:27763634..27765470,3	K562	blood:
2	chr5:27738038..27740601-chr5:27744969..27746907,2	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	chr5:27735388..27737759-chr5:27739133..27741534,2	K562	blood:
7	chr5:27757132..27759985-chr5:27763634..27765470,3	K562	blood:
8	chr5:27738038..27740601-chr5:27744969..27746907,2	K562	blood:

No data

Extended variants
information (count: 775 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:775 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4585457	chr5:27699870-27699871	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs35718632	chr5:27699925-27699926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558618041	chr5:27699968-27699969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190181837	chr5:27699972-27699973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150704435	chr5:27699990-27699991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4643972	chr5:27700007-27700008	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs575994264	chr5:27700010-27700011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373696915	chr5:27700058-27700059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567832973	chr5:27700084-27700085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537484986	chr5:27700172-27700173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535278212	chr5:27700245-27700246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577366321	chr5:27700251-27700252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138937962	chr5:27700286-27700287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114038022	chr5:27700301-27700302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572221479	chr5:27700344-27700345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7737486	chr5:27700373-27700374	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs561262134	chr5:27700377-27700378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7719780	chr5:27700408-27700409	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7737485	chr5:27700409-27700410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181678693	chr5:27700422-27700423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533315763	chr5:27700423-27700424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35438690	chr5:27700461-27700462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551911310	chr5:27700493-27700494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560348130	chr5:27700532-27700533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149412520	chr5:27700562-27700563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574970340	chr5:27700564-27700565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185457252	chr5:27700570-27700571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564661498	chr5:27700605-27700606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567991402	chr5:27700713-27700714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538148447	chr5:27700738-27700739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550017054	chr5:27700777-27700778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543705000	chr5:27700786-27700787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144774360	chr5:27700845-27700846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113676177	chr5:27700853-27700854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112377324	chr5:27700854-27700855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553854149	chr5:27700874-27700875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557013535	chr5:27700885-27700886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113758360	chr5:27700910-27700911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565619537	chr5:27700962-27700963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576959817	chr5:27700991-27700992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139581708	chr5:27701072-27701073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554457437	chr5:27701121-27701122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59452489	chr5:27701169-27701170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190115891	chr5:27701201-27701202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12055003	chr5:27701202-27701203	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs370319119	chr5:27701237-27701238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558848241	chr5:27701269-27701270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572903927	chr5:27701301-27701302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs578080138	chr5:27701313-27701314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545043455	chr5:27701333-27701334	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27699000-27700800	Enhancers	Hela-S3	cervix
2	chr5:27700800-27701200	Weak transcription	Hela-S3	cervix
3	chr5:27701200-27702000	Enhancers	Hela-S3	cervix
4	chr5:27701800-27702000	Enhancers	A549	lung
5	chr5:27702000-27702400	Flanking Active TSS	A549	lung
6	chr5:27702000-27702600	Enhancers	Osteobl	bone
7	chr5:27702000-27703200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:27702000-27703200	Flanking Active TSS	Hela-S3	cervix
9	chr5:27702000-27703800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:27702200-27703200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr5:27702200-27703200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr5:27702200-27703200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:27702200-27703200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:27702200-27703400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:27702200-27703600	Enhancers	NH-A	brain
16	chr5:27702400-27702600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:27702400-27702600	Active TSS	A549	lung
18	chr5:27702400-27703400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:27702600-27702800	Flanking Active TSS	A549	lung
20	chr5:27702600-27703000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:27702600-27703000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:27702600-27703000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:27702600-27703000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr5:27702600-27703000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr5:27702600-27703000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:27702600-27703200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:27702600-27703200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:27702600-27703600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:27702800-27703000	Active TSS	A549	lung
30	chr5:27703000-27703200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:27703000-27703200	Flanking Active TSS	A549	lung
32	chr5:27703200-27703400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:27703200-27703400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:27703200-27703400	Active TSS	A549	lung
35	chr5:27703200-27705000	Enhancers	Hela-S3	cervix
36	chr5:27703200-27708800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr5:27703400-27707000	Weak transcription	A549	lung
38	chr5:27703600-27708600	Weak transcription	NH-A	brain
39	chr5:27703800-27706800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:27705000-27706400	Weak transcription	Hela-S3	cervix
41	chr5:27705200-27705400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:27705400-27706400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:27706000-27706400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr5:27706400-27709600	Enhancers	Hela-S3	cervix
45	chr5:27706800-27709400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:27707000-27707800	Enhancers	A549	lung
47	chr5:27707800-27709000	Weak transcription	A549	lung
48	chr5:27708600-27708800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr5:27708600-27709200	Enhancers	NH-A	brain
50	chr5:27708800-27709200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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