Variant report

Variant	nsv598168
Chromosome Location	chr5:52355516-52373810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:52372459..52375173-chr5:52375877..52379453,3	MCF-7	breast:
2	chr5:52366890..52369025-chr5:52371234..52373244,2	K562	blood:
3	chr5:52352312..52354080-chr5:52355424..52357750,2	K562	blood:
4	chr5:52240942..52242706-chr5:52367816..52370164,2	MCF-7	breast:
5	chr5:52366890..52369025-chr5:52371234..52373244,2	K562	blood:
6	chr5:52372832..52374615-chr5:52379311..52380988,2	K562	blood:

Extended variants
information (count: 726 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:726 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3212684	chr5:52355516-52355517	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181787524	chr5:52355534-52355535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566807951	chr5:52355547-52355548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3212536	chr5:52355566-52355567	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs555844956	chr5:52355589-52355590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574038639	chr5:52355594-52355595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538354844	chr5:52355599-52355600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556350207	chr5:52355645-52355646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370106295	chr5:52355677-52355678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144998443	chr5:52355706-52355707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149096085	chr5:52355747-52355748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375853127	chr5:52355757-52355758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145972986	chr5:52355798-52355799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186323075	chr5:52355829-52355830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373309715	chr5:52355847-52355848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560718885	chr5:52355850-52355851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2303127	chr5:52355854-52355855	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs543487108	chr5:52355994-52355995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373451689	chr5:52355995-52355996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542909098	chr5:52356000-52356001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3212537	chr5:52356006-52356007	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs369657231	chr5:52356007-52356008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141703251	chr5:52356014-52356015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113960967	chr5:52356037-52356038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373555594	chr5:52356042-52356043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572294329	chr5:52356043-52356044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562414366	chr5:52356050-52356051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112174038	chr5:52356200-52356201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574256971	chr5:52356206-52356207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189554856	chr5:52356262-52356263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs180870003	chr5:52356270-52356271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367569453	chr5:52356318-52356319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186259364	chr5:52356323-52356324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61310232	chr5:52356324-52356325	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs567681760	chr5:52356343-52356344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112829225	chr5:52356426-52356427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139272011	chr5:52356432-52356433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571682568	chr5:52356445-52356446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183396955	chr5:52356453-52356454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62357252	chr5:52356457-52356458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560142883	chr5:52356465-52356466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553988544	chr5:52356486-52356487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572257802	chr5:52356515-52356516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542923502	chr5:52356524-52356525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187441028	chr5:52356532-52356533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112343324	chr5:52356549-52356550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573323331	chr5:52356590-52356591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543902913	chr5:52356613-52356614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562497304	chr5:52356655-52356656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs3212538	chr5:52356692-52356693	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:90)

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
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	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
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52324400-52356400	Weak transcription	Brain Anterior Caudate	brain
2	chr5:52328000-52369200	Weak transcription	Fetal Intestine Small	intestine
3	chr5:52333800-52369800	Weak transcription	Colonic Mucosa	Colon
4	chr5:52333800-52392600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:52334000-52360800	Weak transcription	Small Intestine	intestine
6	chr5:52334800-52380800	Weak transcription	Stomach Mucosa	stomach
7	chr5:52334800-52391200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:52336400-52399800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:52337400-52369000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:52337400-52370200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:52341200-52396400	Strong transcription	HMEC	breast
12	chr5:52341400-52359000	Weak transcription	NHDF-Ad	bronchial
13	chr5:52341400-52396400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:52341800-52358800	Weak transcription	Osteobl	bone
15	chr5:52342000-52367200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:52342400-52363600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:52342600-52383800	Strong transcription	NHEK	skin
18	chr5:52343000-52359000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:52343200-52361800	Strong transcription	HepG2	liver
20	chr5:52343400-52357200	Strong transcription	HUVEC	blood vessel
21	chr5:52343400-52392800	Weak transcription	Left Ventricle	heart
22	chr5:52344000-52369200	Weak transcription	Pancreas	Pancrea
23	chr5:52344200-52356000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr5:52344400-52356400	Weak transcription	Esophagus	oesophagus
25	chr5:52344400-52356400	Weak transcription	Gastric	stomach
26	chr5:52346200-52386800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:52346600-52369200	Weak transcription	Brain Angular Gyrus	brain
28	chr5:52347200-52370000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:52347600-52387000	Weak transcription	Fetal Stomach	stomach
30	chr5:52347800-52369200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:52347800-52395000	Weak transcription	Psoas Muscle	Psoas
32	chr5:52348200-52359000	Strong transcription	NH-A	brain
33	chr5:52348600-52371000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:52348600-52394800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr5:52348800-52356000	Weak transcription	Brain Hippocampus Middle	brain
36	chr5:52349000-52370200	Weak transcription	Dnd41	blood
37	chr5:52349400-52361400	Weak transcription	A549	lung
38	chr5:52349400-52362800	Weak transcription	Brain Substantia Nigra	brain
39	chr5:52349400-52379600	Weak transcription	Fetal Muscle Leg	muscle
40	chr5:52349600-52356400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr5:52349600-52356400	Weak transcription	NHLF	lung
42	chr5:52349600-52356600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr5:52349600-52362800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:52349600-52369000	Weak transcription	Lung	lung
45	chr5:52349600-52371400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:52352000-52359200	Strong transcription	Hela-S3	cervix
47	chr5:52352400-52363200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:52352400-52379200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:52352400-52389800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:52352600-52357600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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