Variant report

Variant	nsv880866
Chromosome Location	chr5:52358262-52378295
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:52366890..52369025-chr5:52371234..52373244,2	K562	blood:
2	chr5:52372459..52375173-chr5:52375877..52379453,3	MCF-7	breast:
3	chr5:52366890..52369025-chr5:52371234..52373244,2	K562	blood:
4	chr5:52240942..52242706-chr5:52367816..52370164,2	MCF-7	breast:
5	chr5:52372832..52374615-chr5:52379311..52380988,2	K562	blood:
6	chr5:52376435..52379263-chr5:52381516..52385182,3	MCF-7	breast:
7	chr5:52372459..52375173-chr5:52375877..52379453,3	MCF-7	breast:

Extended variants
information (count: 772 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:772 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3212543	chr5:52358262-52358263	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143437514	chr5:52358276-52358277	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547421800	chr5:52358392-52358393	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559319932	chr5:52358406-52358407	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530137358	chr5:52358480-52358481	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548237159	chr5:52358482-52358483	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146756329	chr5:52358491-52358492	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540108781	chr5:52358500-52358501	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537626409	chr5:52358516-52358517	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549482329	chr5:52358518-52358519	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369617729	chr5:52358539-52358540	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140417934	chr5:52358577-52358578	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192640507	chr5:52358583-52358584	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201300986	chr5:52358587-52358588	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535329492	chr5:52358589-52358590	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs41459150	chr5:52358606-52358607	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557757619	chr5:52358650-52358651	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147027469	chr5:52358654-52358655	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148096404	chr5:52358658-52358659	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371281604	chr5:52358678-52358679	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200805184	chr5:52358679-52358680	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572020615	chr5:52358739-52358740	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs199808499	chr5:52358751-52358752	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1801106	chr5:52358757-52358758	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs79094341	chr5:52358758-52358759	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545988273	chr5:52358761-52358762	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201610232	chr5:52358762-52358763	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369351309	chr5:52358769-52358770	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543630371	chr5:52358790-52358791	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150294533	chr5:52358879-52358880	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs3212544	chr5:52358887-52358888	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs184977899	chr5:52358918-52358919	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559332563	chr5:52358937-52358938	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574579770	chr5:52358942-52358943	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530003988	chr5:52358996-52358997	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs137941943	chr5:52359035-52359036	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188800280	chr5:52359036-52359037	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs3212545	chr5:52359037-52359038	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs3212546	chr5:52359103-52359104	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs149053072	chr5:52359116-52359117	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528795799	chr5:52359134-52359135	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs3212547	chr5:52359234-52359235	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs546098801	chr5:52359263-52359264	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371381215	chr5:52359271-52359272	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs3212686	chr5:52359298-52359299	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs367581658	chr5:52359299-52359300	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs3212548	chr5:52359307-52359308	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs554244734	chr5:52359362-52359363	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79177061	chr5:52359370-52359371	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181574335	chr5:52359383-52359384	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic 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:349 , 50 per page) page: 1 2 3 4 5 6 7

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	chr5:52334000-52360800	Weak transcription	Small Intestine	intestine
5	chr5:52334800-52380800	Weak transcription	Stomach Mucosa	stomach
6	chr5:52334800-52391200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:52336400-52399800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:52337400-52369000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:52337400-52370200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:52341200-52396400	Strong transcription	HMEC	breast
11	chr5:52341400-52359000	Weak transcription	NHDF-Ad	bronchial
12	chr5:52341400-52396400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:52341800-52358800	Weak transcription	Osteobl	bone
14	chr5:52342000-52367200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:52342400-52363600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:52342600-52383800	Strong transcription	NHEK	skin
17	chr5:52343000-52359000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:52343200-52361800	Strong transcription	HepG2	liver
19	chr5:52343400-52392800	Weak transcription	Left Ventricle	heart
20	chr5:52344000-52369200	Weak transcription	Pancreas	Pancrea
21	chr5:52346200-52386800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr5:52346600-52369200	Weak transcription	Brain Angular Gyrus	brain
23	chr5:52347200-52370000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:52347600-52387000	Weak transcription	Fetal Stomach	stomach
25	chr5:52347800-52369200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr5:52347800-52395000	Weak transcription	Psoas Muscle	Psoas
27	chr5:52348200-52359000	Strong transcription	NH-A	brain
28	chr5:52348600-52371000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:52348600-52394800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:52349000-52370200	Weak transcription	Dnd41	blood
31	chr5:52349400-52361400	Weak transcription	A549	lung
32	chr5:52349400-52362800	Weak transcription	Brain Substantia Nigra	brain
33	chr5:52349400-52379600	Weak transcription	Fetal Muscle Leg	muscle
34	chr5:52349600-52362800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr5:52349600-52369000	Weak transcription	Lung	lung
36	chr5:52349600-52371400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:52352000-52359200	Strong transcription	Hela-S3	cervix
38	chr5:52352400-52363200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:52352400-52379200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:52352400-52389800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:52352600-52359400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:52353000-52364600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr5:52353000-52367800	Weak transcription	Aorta	Aorta
44	chr5:52353600-52358400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:52353800-52358400	Strong transcription	Fetal Intestine Large	intestine
46	chr5:52354200-52368800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr5:52354200-52372000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr5:52355200-52359000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr5:52355600-52371000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr5:52356400-52359000	Strong transcription	NHLF	lung

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