Variant report

Variant	nsv1031306
Chromosome Location	chr5:27646090-27786016
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:27735388..27737759-chr5:27739133..27741534,2	K562	blood:
2	chr5:27738038..27740601-chr5:27744969..27746907,2	K562	blood:
3	chr5:27703201..27705490-chr5:27706279..27707941,2	MCF-7	breast:
4	chr5:27735388..27737759-chr5:27739133..27741534,2	K562	blood:
5	chr5:27757132..27759985-chr5:27763634..27765470,3	K562	blood:
6	chr5:27703201..27705490-chr5:27706279..27707941,2	MCF-7	breast:
7	chr5:27757132..27759985-chr5:27763634..27765470,3	K562	blood:
8	chr5:27738038..27740601-chr5:27744969..27746907,2	K562	blood:
9	chr5:27662645..27663246-chr6:2453687..2454350,2	MCF-7	breast:

No data

Extended variants
information (count: 1173 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1173 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553411135	chr5:27652217-27652218	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs574978328	chr5:27652227-27652228	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs542398268	chr5:27652354-27652355	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs563497247	chr5:27652389-27652390	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs575533457	chr5:27652412-27652413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546059690	chr5:27652535-27652536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147564303	chr5:27652581-27652582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201031252	chr5:27652597-27652598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141912033	chr5:27652624-27652625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116211162	chr5:27652634-27652635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145767300	chr5:27652644-27652645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183478320	chr5:27652650-27652651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546036735	chr5:27652689-27652690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113714850	chr5:27652778-27652779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13183405	chr5:27652792-27652793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs148899673	chr5:27652800-27652801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187598383	chr5:27652818-27652819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143567473	chr5:27652822-27652823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570889475	chr5:27652902-27652903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535016501	chr5:27652923-27652924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148026893	chr5:27652949-27652950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10472577	chr5:27652959-27652960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs535530788	chr5:27653104-27653105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557154445	chr5:27653151-27653152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575398734	chr5:27653160-27653161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546121183	chr5:27653235-27653236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114082517	chr5:27653253-27653254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572792664	chr5:27653256-27653257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191667744	chr5:27653286-27653287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548446301	chr5:27653294-27653295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372194738	chr5:27653318-27653319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542216208	chr5:27653355-27653356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568145844	chr5:27653371-27653372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561479221	chr5:27653380-27653381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112847053	chr5:27653394-27653395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141477068	chr5:27653413-27653414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562709939	chr5:27653441-27653442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533141428	chr5:27653465-27653466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551748983	chr5:27653471-27653472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561440895	chr5:27653505-27653506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527550087	chr5:27653542-27653543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77902087	chr5:27653544-27653545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568332159	chr5:27653562-27653563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535961077	chr5:27653586-27653587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368181684	chr5:27653608-27653609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557019506	chr5:27653613-27653614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145670833	chr5:27653624-27653625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370650262	chr5:27653667-27653668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112891132	chr5:27653702-27653703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114604129	chr5:27653737-27653738	Weak transcription	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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27652200-27652400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:27652400-27659600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:27659600-27659800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:27688400-27689200	Enhancers	Hela-S3	cervix
5	chr5:27688800-27689200	Enhancers	Fetal Brain Female	brain
6	chr5:27689000-27689200	Enhancers	Fetal Kidney	kidney
7	chr5:27697000-27697200	Enhancers	Hela-S3	cervix
8	chr5:27697200-27699000	Weak transcription	Hela-S3	cervix
9	chr5:27699000-27700800	Enhancers	Hela-S3	cervix
10	chr5:27700800-27701200	Weak transcription	Hela-S3	cervix
11	chr5:27701200-27702000	Enhancers	Hela-S3	cervix
12	chr5:27701800-27702000	Enhancers	A549	lung
13	chr5:27702000-27702400	Flanking Active TSS	A549	lung
14	chr5:27702000-27702600	Enhancers	Osteobl	bone
15	chr5:27702000-27703200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:27702000-27703200	Flanking Active TSS	Hela-S3	cervix
17	chr5:27702000-27703800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:27702200-27703200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr5:27702200-27703200	Enhancers	H9 Cell Line	embryonic stem cell
20	chr5:27702200-27703200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:27702200-27703200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:27702200-27703400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:27702200-27703600	Enhancers	NH-A	brain
24	chr5:27702400-27702600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:27702400-27702600	Active TSS	A549	lung
26	chr5:27702400-27703400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:27702600-27702800	Flanking Active TSS	A549	lung
28	chr5:27702600-27703000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:27702600-27703000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:27702600-27703000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:27702600-27703000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr5:27702600-27703000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr5:27702600-27703000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:27702600-27703200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr5:27702600-27703200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr5:27702600-27703600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:27702800-27703000	Active TSS	A549	lung
38	chr5:27703000-27703200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:27703000-27703200	Flanking Active TSS	A549	lung
40	chr5:27703200-27703400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:27703200-27703400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:27703200-27703400	Active TSS	A549	lung
43	chr5:27703200-27705000	Enhancers	Hela-S3	cervix
44	chr5:27703200-27708800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr5:27703400-27707000	Weak transcription	A549	lung
46	chr5:27703600-27708600	Weak transcription	NH-A	brain
47	chr5:27703800-27706800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:27705000-27706400	Weak transcription	Hela-S3	cervix
49	chr5:27705200-27705400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:27705400-27706400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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