Variant report

Variant	nsv525225
Chromosome Location	chr5:80849084-80883110
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:80859809..80862860-chr5:80870280..80872948,3	K562	blood:
2	chr5:80870794..80873300-chr5:80875722..80877575,2	K562	blood:
3	chr5:80846060..80848703-chr5:80848977..80851148,2	MCF-7	breast:
4	chr5:80848254..80852026-chr5:80853882..80857592,4	K562	blood:
5	chr5:80872758..80875728-chr5:80879949..80882376,2	K562	blood:
6	chr5:80874625..80877374-chr5:81570400..81571959,2	K562	blood:
7	chr5:80853359..80856106-chr5:80858395..80860848,2	K562	blood:
8	chr5:80872758..80875728-chr5:80879949..80882376,2	K562	blood:
9	chr5:80859809..80862860-chr5:80870280..80872948,3	K562	blood:
10	chr5:80848254..80852026-chr5:80853882..80857592,4	K562	blood:
11	chr5:80853359..80856106-chr5:80858395..80860848,2	K562	blood:
12	chr5:80870794..80873300-chr5:80875722..80877575,2	K562	blood:

No data

Extended variants
information (count: 1164 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1164 , 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	rs2972229	chr5:80849084-80849085	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6891181	chr5:80849101-80849102	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs183820203	chr5:80849153-80849154	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs548973137	chr5:80849154-80849155	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs565491088	chr5:80849168-80849169	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs528012328	chr5:80849193-80849194	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs548076590	chr5:80849252-80849253	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs562928087	chr5:80849343-80849344	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs571092815	chr5:80849362-80849363	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs540017882	chr5:80849387-80849388	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs141473374	chr5:80849476-80849477	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs145165250	chr5:80849500-80849501	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs2972228	chr5:80849555-80849556	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs555737139	chr5:80849569-80849570	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs201021630	chr5:80849586-80849587	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs138924535	chr5:80849618-80849619	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs10474032	chr5:80849728-80849729	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs189244351	chr5:80849758-80849759	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs192858418	chr5:80849775-80849776	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs534581519	chr5:80849795-80849796	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs543201620	chr5:80849833-80849834	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs560898621	chr5:80849844-80849845	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs563297853	chr5:80849872-80849873	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs528986707	chr5:80850026-80850027	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs149355146	chr5:80850082-80850083	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs184656922	chr5:80850087-80850088	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs11954000	chr5:80850092-80850093	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs10474033	chr5:80850107-80850108	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs114335134	chr5:80850108-80850109	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs533610096	chr5:80850111-80850112	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs35340025	chr5:80850166-80850167	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs570104893	chr5:80850232-80850233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143642128	chr5:80850333-80850334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555562034	chr5:80850440-80850441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551700436	chr5:80850458-80850459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201918758	chr5:80850489-80850490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565762464	chr5:80850501-80850502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534691488	chr5:80850515-80850516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557667768	chr5:80850642-80850643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10057707	chr5:80850664-80850665	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs543304994	chr5:80850787-80850788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148121329	chr5:80850793-80850794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368766287	chr5:80850798-80850799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537958291	chr5:80850808-80850809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537303186	chr5:80850810-80850811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10064862	chr5:80850815-80850816	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs573652102	chr5:80850839-80850840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376280781	chr5:80850880-80850881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs386689540	chr5:80850881-80850882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187552996	chr5:80850888-80850889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Tetralogy of Fallot	22912587	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80803600-80875200	Weak transcription	Fetal Brain Female	brain
2	chr5:80820200-80851800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:80825200-80865200	Weak transcription	Fetal Brain Male	brain
4	chr5:80828800-80863400	Weak transcription	Fetal Lung	lung
5	chr5:80830000-80853800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr5:80830800-80849600	Weak transcription	Adipose Nuclei	Adipose
7	chr5:80830800-80850000	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:80834000-80849600	Weak transcription	Brain Angular Gyrus	brain
9	chr5:80834000-80851600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:80834400-80867000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:80834800-80866400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr5:80834800-80870000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr5:80835000-80852000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:80835200-80850400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:80835200-80863000	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:80835200-80872800	Weak transcription	Fetal Kidney	kidney
17	chr5:80835200-80875200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:80835600-80876000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr5:80840800-80883400	Weak transcription	HSMM	muscle
20	chr5:80840800-80884600	Weak transcription	Ovary	ovary
21	chr5:80841600-80849200	Weak transcription	Brain Anterior Caudate	brain
22	chr5:80844200-80884600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:80844600-80849600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr5:80845800-80862000	Weak transcription	Thymus	Thymus
25	chr5:80845800-80863000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:80846000-80849600	Weak transcription	Primary B cells from cord blood	blood
27	chr5:80846200-80850600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr5:80846200-80880600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:80846600-80849400	Weak transcription	Primary T cells from cord blood	blood
30	chr5:80846600-80849400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:80846600-80860000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:80846800-80851800	Weak transcription	Fetal Thymus	thymus
33	chr5:80848000-80856400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:80848600-80849200	Enhancers	HMEC	breast
35	chr5:80848600-80850200	Enhancers	Stomach Mucosa	stomach
36	chr5:80848600-80850200	Flanking Active TSS	HUVEC	blood vessel
37	chr5:80848600-80851400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:80848800-80849400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr5:80848800-80849400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr5:80848800-80849600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:80848800-80849800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:80848800-80850000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr5:80848800-80850800	Enhancers	Primary hematopoietic stem cells	blood
44	chr5:80849000-80849200	Enhancers	K562	blood
45	chr5:80849000-80849600	Weak transcription	Dnd41	blood
46	chr5:80849000-80849800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr5:80849000-80885600	Weak transcription	Left Ventricle	heart
48	chr5:80849200-80849400	Enhancers	Brain Anterior Caudate	brain
49	chr5:80849400-80849600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:80849400-80849800	Enhancers	Pancreatic Islets	Pancreatic Islet

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