Variant report

Variant	nsv881048
Chromosome Location	chr5:52367956-52370174
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	chr5:52366890..52369025-chr5:52371234..52373244,2	K562	blood:
2	chr5:52240942..52242706-chr5:52367816..52370164,2	MCF-7	breast:

Extended variants
information (count: 102 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3212581	chr5:52367956-52367957	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529576249	chr5:52367968-52367969	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs182185143	chr5:52367982-52367983	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs534600359	chr5:52368139-52368140	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117017311	chr5:52368224-52368225	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530528377	chr5:52368228-52368229	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147264084	chr5:52368247-52368248	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570882242	chr5:52368302-52368303	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369358096	chr5:52368312-52368313	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551820967	chr5:52368336-52368337	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570331810	chr5:52368358-52368359	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs3212582	chr5:52368366-52368367	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs117373649	chr5:52368374-52368375	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556602027	chr5:52368378-52368379	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568301955	chr5:52368392-52368393	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373916627	chr5:52368416-52368417	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575438997	chr5:52368438-52368439	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368644661	chr5:52368439-52368440	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186785119	chr5:52368443-52368444	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs3212583	chr5:52368472-52368473	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs118190231	chr5:52368473-52368474	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539957278	chr5:52368506-52368507	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs199867897	chr5:52368514-52368515	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558256222	chr5:52368518-52368519	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191616009	chr5:52368525-52368526	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs3212584	chr5:52368546-52368547	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs3212585	chr5:52368565-52368566	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs3212586	chr5:52368594-52368595	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs544849926	chr5:52368632-52368633	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565293537	chr5:52368670-52368671	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562959729	chr5:52368726-52368727	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530395617	chr5:52368746-52368747	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532504964	chr5:52368757-52368758	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182629998	chr5:52368793-52368794	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563870483	chr5:52368855-52368856	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528177831	chr5:52368871-52368872	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113242832	chr5:52368872-52368873	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369162697	chr5:52368897-52368898	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs3212587	chr5:52368917-52368918	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs984966	chr5:52368922-52368923	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs529185082	chr5:52368927-52368928	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372107314	chr5:52368936-52368937	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs193168830	chr5:52368941-52368942	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374825162	chr5:52368956-52368957	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371216954	chr5:52368957-52368958	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532669426	chr5:52368986-52368987	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569296913	chr5:52368989-52368990	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79932422	chr5:52369001-52369002	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs3212327	chr5:52369002-52369003	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs41441846	chr5:52369003-52369004	Weak transcription Strong transcription Genic enhancers Enhancers	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52328000-52369200	Weak transcription	Fetal Intestine Small	intestine
2	chr5:52333800-52369800	Weak transcription	Colonic Mucosa	Colon
3	chr5:52333800-52392600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:52334800-52380800	Weak transcription	Stomach Mucosa	stomach
5	chr5:52334800-52391200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:52336400-52399800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:52337400-52369000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:52337400-52370200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:52341200-52396400	Strong transcription	HMEC	breast
10	chr5:52341400-52396400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:52342600-52383800	Strong transcription	NHEK	skin
12	chr5:52343400-52392800	Weak transcription	Left Ventricle	heart
13	chr5:52344000-52369200	Weak transcription	Pancreas	Pancrea
14	chr5:52346200-52386800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:52346600-52369200	Weak transcription	Brain Angular Gyrus	brain
16	chr5:52347200-52370000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:52347600-52387000	Weak transcription	Fetal Stomach	stomach
18	chr5:52347800-52369200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:52347800-52395000	Weak transcription	Psoas Muscle	Psoas
20	chr5:52348600-52371000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:52348600-52394800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:52349000-52370200	Weak transcription	Dnd41	blood
23	chr5:52349400-52379600	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:52349600-52369000	Weak transcription	Lung	lung
25	chr5:52349600-52371400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:52352400-52379200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:52352400-52389800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:52354200-52368800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:52354200-52372000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr5:52355600-52371000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:52356800-52370800	Weak transcription	Brain Anterior Caudate	brain
32	chr5:52356800-52394000	Weak transcription	Fetal Kidney	kidney
33	chr5:52357200-52369200	Weak transcription	Esophagus	oesophagus
34	chr5:52357200-52371400	Weak transcription	Gastric	stomach
35	chr5:52357400-52369000	Weak transcription	Brain Hippocampus Middle	brain
36	chr5:52357400-52370400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:52359400-52380000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr5:52360200-52388800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:52360600-52374200	Strong transcription	Hela-S3	cervix
40	chr5:52361200-52392800	Weak transcription	Small Intestine	intestine
41	chr5:52361800-52368200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:52362200-52387800	Strong transcription	HepG2	liver
43	chr5:52362400-52382400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:52363200-52376400	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr5:52363400-52382600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:52364000-52369000	Weak transcription	A549	lung
47	chr5:52364200-52374000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr5:52364600-52369200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr5:52364600-52371200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr5:52365400-52368200	Strong transcription	Fetal Intestine Large	intestine

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