Variant report

Variant	nsv598170
Chromosome Location	chr5:52373696-52376916
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	chr5:52372832..52374615-chr5:52379311..52380988,2	K562	blood:
3	chr5:52372459..52375173-chr5:52375877..52379453,3	MCF-7	breast:
4	chr5:52376435..52379263-chr5:52381516..52385182,3	MCF-7	breast:

Extended variants
information (count: 106 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3212602	chr5:52373696-52373697	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75220195	chr5:52373702-52373703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557601793	chr5:52373786-52373787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3212603	chr5:52373810-52373811	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs546399153	chr5:52373839-52373840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs36082389	chr5:52373998-52373999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564663438	chr5:52374040-52374041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1445942	chr5:52374088-52374089	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs540719083	chr5:52374119-52374120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191473131	chr5:52374165-52374166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559256134	chr5:52374172-52374173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184554620	chr5:52374180-52374181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566931397	chr5:52374195-52374196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549831711	chr5:52374196-52374197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1445941	chr5:52374227-52374228	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs569537207	chr5:52374303-52374304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530650704	chr5:52374339-52374340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551943183	chr5:52374366-52374367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570702842	chr5:52374443-52374444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3212604	chr5:52374452-52374453	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs553099294	chr5:52374476-52374477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540079113	chr5:52374512-52374513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3212605	chr5:52374528-52374529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201764792	chr5:52374576-52374577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200656903	chr5:52374602-52374603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139990839	chr5:52374634-52374635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575795328	chr5:52374636-52374637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149447000	chr5:52374654-52374655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143880458	chr5:52374657-52374658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189823838	chr5:52374670-52374671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140370819	chr5:52374677-52374678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541896914	chr5:52374822-52374823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs41268441	chr5:52374823-52374824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573461597	chr5:52374839-52374840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149700015	chr5:52374887-52374888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76516162	chr5:52374919-52374920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181425904	chr5:52374921-52374922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140672115	chr5:52374950-52374951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185209284	chr5:52374982-52374983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530516807	chr5:52375132-52375133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552089568	chr5:52375143-52375144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs3212695	chr5:52375199-52375200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564263103	chr5:52375280-52375281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144462919	chr5:52375308-52375309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546842687	chr5:52375309-52375310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs3212606	chr5:52375359-52375360	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs3212607	chr5:52375382-52375383	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs550986830	chr5:52375452-52375453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569423291	chr5:52375459-52375460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201291690	chr5:52375476-52375477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52333800-52392600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr5:52334800-52380800	Weak transcription	Stomach Mucosa	stomach
3	chr5:52334800-52391200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:52336400-52399800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:52341200-52396400	Strong transcription	HMEC	breast
6	chr5:52341400-52396400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:52342600-52383800	Strong transcription	NHEK	skin
8	chr5:52343400-52392800	Weak transcription	Left Ventricle	heart
9	chr5:52346200-52386800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr5:52347600-52387000	Weak transcription	Fetal Stomach	stomach
11	chr5:52347800-52395000	Weak transcription	Psoas Muscle	Psoas
12	chr5:52348600-52394800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:52349400-52379600	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:52352400-52379200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:52352400-52389800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:52356800-52394000	Weak transcription	Fetal Kidney	kidney
17	chr5:52359400-52380000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr5:52360200-52388800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:52360600-52374200	Strong transcription	Hela-S3	cervix
20	chr5:52361200-52392800	Weak transcription	Small Intestine	intestine
21	chr5:52362200-52387800	Strong transcription	HepG2	liver
22	chr5:52362400-52382400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:52363200-52376400	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr5:52363400-52382600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:52364200-52374000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:52365800-52394800	Weak transcription	Right Ventricle	heart
27	chr5:52366000-52382800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:52367400-52386200	Strong transcription	HUVEC	blood vessel
29	chr5:52367400-52388000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:52367600-52381200	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr5:52367600-52385000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:52367800-52374200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:52367800-52386000	Strong transcription	NH-A	brain
34	chr5:52368000-52386200	Weak transcription	Aorta	Aorta
35	chr5:52368800-52376400	Strong transcription	Duodenum Mucosa	Duodenum
36	chr5:52369000-52375200	Strong transcription	A549	lung
37	chr5:52369000-52381000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:52369000-52392800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:52369400-52382600	Weak transcription	Brain Angular Gyrus	brain
40	chr5:52369400-52383600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:52369600-52375800	Weak transcription	Esophagus	oesophagus
42	chr5:52369800-52379800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:52370400-52394600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr5:52370400-52404600	Weak transcription	Brain Germinal Matrix	brain
45	chr5:52370800-52376400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr5:52371400-52375800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr5:52371800-52376000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr5:52372000-52374400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr5:52372000-52382600	Weak transcription	Brain Anterior Caudate	brain
50	chr5:52372000-52394800	Weak transcription	Colonic Mucosa	Colon

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