Variant report

Variant	nsv969227
Chromosome Location	chr5:59550035-59556265
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:59549482..59552233-chr5:59553881..59555409,2	K562	blood:
2	chr5:59549482..59552233-chr5:59553881..59555409,2	K562	blood:

Extended variants
information (count: 208 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:208 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572329273	chr5:59550035-59550036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111891068	chr5:59550044-59550045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74734902	chr5:59550050-59550051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112663320	chr5:59550066-59550067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562593306	chr5:59550070-59550071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543883106	chr5:59550101-59550102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532020265	chr5:59550164-59550165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534644052	chr5:59550259-59550260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533460101	chr5:59550302-59550303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35723906	chr5:59550308-59550309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77079954	chr5:59550316-59550317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146195017	chr5:59550365-59550366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552116547	chr5:59550370-59550371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565743278	chr5:59550374-59550375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139756797	chr5:59550437-59550438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543080245	chr5:59550455-59550456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7444733	chr5:59550506-59550507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs568626758	chr5:59550521-59550522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369452615	chr5:59550582-59550583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537277533	chr5:59550649-59550650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189748002	chr5:59550700-59550701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569735194	chr5:59550727-59550728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538749244	chr5:59550733-59550734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76402232	chr5:59550758-59550759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113228750	chr5:59550760-59550761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572118513	chr5:59550825-59550826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547522231	chr5:59550881-59550882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376695647	chr5:59550896-59550897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79541339	chr5:59550912-59550913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567973147	chr5:59551005-59551006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62370659	chr5:59551018-59551019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs533000408	chr5:59551110-59551111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543223151	chr5:59551263-59551264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142990784	chr5:59551369-59551370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546578831	chr5:59551386-59551387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201544432	chr5:59551424-59551425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551519541	chr5:59551463-59551464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183109290	chr5:59551511-59551512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569886387	chr5:59551516-59551517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150663421	chr5:59551529-59551530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187842507	chr5:59551547-59551548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537328825	chr5:59551548-59551549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548844458	chr5:59551614-59551615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71606627	chr5:59551631-59551632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376298970	chr5:59551632-59551633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139851464	chr5:59551661-59551662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531252488	chr5:59551684-59551685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190409538	chr5:59551693-59551694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117503703	chr5:59551732-59551733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538735776	chr5:59551742-59551743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
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
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59546200-59551400	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr5:59546400-59555200	Weak transcription	Primary B cells from cord blood	blood
3	chr5:59551400-59554400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:59551800-59553400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr5:59552400-59553600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr5:59552400-59554200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:59553000-59553200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:59553200-59554000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr5:59553200-59554400	Enhancers	HepG2	liver
10	chr5:59553400-59553800	Enhancers	Fetal Lung	lung
11	chr5:59553400-59554200	Enhancers	Brain Cingulate Gyrus	brain
12	chr5:59553400-59554200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr5:59553400-59554200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr5:59553600-59554000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr5:59553600-59554000	Enhancers	Adipose Nuclei	Adipose
16	chr5:59553600-59554000	Enhancers	Brain Substantia Nigra	brain
17	chr5:59553600-59554000	Enhancers	Fetal Brain Female	brain
18	chr5:59553600-59554200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr5:59553600-59554400	Enhancers	Fetal Brain Male	brain
20	chr5:59553800-59554000	Enhancers	Primary hematopoietic stem cells	blood
21	chr5:59553800-59554000	Enhancers	Gastric	stomach
22	chr5:59554000-59555000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:59554000-59555200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:59554200-59555000	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr5:59554200-59555200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:59554200-59557600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:59554200-59562400	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr5:59554400-59554800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr5:59554400-59561600	Weak transcription	HepG2	liver
30	chr5:59554800-59559600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr5:59555000-59556800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr5:59555000-59557200	Enhancers	Hela-S3	cervix
33	chr5:59555000-59558800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr5:59555200-59555800	Enhancers	Placenta Amnion	Placenta Amnion
35	chr5:59555200-59556600	Enhancers	Primary hematopoietic stem cells	blood
36	chr5:59555200-59557600	Enhancers	Primary B cells from cord blood	blood
37	chr5:59555400-59555800	Enhancers	Aorta	Aorta
38	chr5:59555400-59556400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:59555400-59557000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:59555800-59557600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr5:59556000-59556600	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr5:59556000-59556800	Enhancers	HUVEC	blood vessel
43	chr5:59556200-59557200	Enhancers	Muscle Satellite Cultured Cells	--

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