Variant report

Variant	nsv881148
Chromosome Location	chr5:52341064-52346527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:52342580..52344559-chr5:52347867..52350544,2	K562	blood:
2	chr5:52340133..52343071-chr5:52343982..52345648,2	K562	blood:
3	chr5:52340133..52343071-chr5:52343982..52345648,2	K562	blood:

Extended variants
information (count: 232 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:232 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1421937	chr5:52341064-52341065	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558504558	chr5:52341089-52341090	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35305628	chr5:52341103-52341104	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs3212461	chr5:52341110-52341111	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs534473437	chr5:52341162-52341163	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs60930152	chr5:52341221-52341222	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531140047	chr5:52341248-52341249	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574364870	chr5:52341274-52341275	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375289950	chr5:52341300-52341301	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs3212462	chr5:52341359-52341360	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs535242478	chr5:52341366-52341367	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs3212463	chr5:52341394-52341395	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs26676	chr5:52341402-52341403	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs545557839	chr5:52341421-52341422	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375475453	chr5:52341439-52341440	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534660610	chr5:52341502-52341503	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs3212464	chr5:52341512-52341513	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs572826524	chr5:52341659-52341660	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544357013	chr5:52341665-52341666	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540502216	chr5:52341695-52341696	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181577135	chr5:52341696-52341697	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184527097	chr5:52341699-52341700	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145336864	chr5:52341734-52341735	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs58838830	chr5:52341736-52341737	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529243270	chr5:52341737-52341738	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs56296421	chr5:52341742-52341743	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3212465	chr5:52341743-52341744	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs3212466	chr5:52341746-52341747	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77816287	chr5:52341747-52341748	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10940289	chr5:52341756-52341757	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs576276117	chr5:52341785-52341786	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190630494	chr5:52341812-52341813	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549648277	chr5:52341818-52341819	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567965943	chr5:52341836-52341837	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10940290	chr5:52341850-52341851	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs368358299	chr5:52341869-52341870	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148095762	chr5:52341880-52341881	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574963086	chr5:52341895-52341896	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12657972	chr5:52341966-52341967	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs557563318	chr5:52341979-52341980	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140978269	chr5:52341988-52341989	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535754011	chr5:52342024-52342025	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs58926174	chr5:52342025-52342026	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56260528	chr5:52342038-52342039	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35994420	chr5:52342039-52342040	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12657980	chr5:52342041-52342042	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs372724902	chr5:52342054-52342055	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140284076	chr5:52342081-52342082	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs3212467	chr5:52342083-52342084	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs3212468	chr5:52342108-52342109	Weak transcription Enhancers 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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52314200-52348000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:52324400-52356400	Weak transcription	Brain Anterior Caudate	brain
3	chr5:52327800-52344200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:52328000-52369200	Weak transcription	Fetal Intestine Small	intestine
5	chr5:52328800-52348000	Weak transcription	Fetal Intestine Large	intestine
6	chr5:52333400-52341400	Strong transcription	HepG2	liver
7	chr5:52333800-52348800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:52333800-52369800	Weak transcription	Colonic Mucosa	Colon
9	chr5:52333800-52392600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr5:52334000-52360800	Weak transcription	Small Intestine	intestine
11	chr5:52334400-52348000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:52334600-52343400	Weak transcription	Gastric	stomach
13	chr5:52334600-52348400	Weak transcription	Lung	lung
14	chr5:52334800-52343400	Weak transcription	Esophagus	oesophagus
15	chr5:52334800-52343800	Weak transcription	Brain Hippocampus Middle	brain
16	chr5:52334800-52343800	Weak transcription	Pancreas	Pancrea
17	chr5:52334800-52348000	Weak transcription	Brain Substantia Nigra	brain
18	chr5:52334800-52380800	Weak transcription	Stomach Mucosa	stomach
19	chr5:52334800-52391200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:52336400-52399800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:52337200-52353400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr5:52337400-52346400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr5:52337400-52348800	Weak transcription	A549	lung
24	chr5:52337400-52355200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:52337400-52369000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr5:52337400-52370200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:52337800-52341800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:52337800-52343200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:52338000-52348200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr5:52340200-52341200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:52340200-52342000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr5:52340400-52341400	Genic enhancers	NHEK	skin
33	chr5:52340600-52341200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:52340600-52341200	Enhancers	NHLF	lung
35	chr5:52340600-52341400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:52340600-52341400	Genic enhancers	Hela-S3	cervix
37	chr5:52340600-52341400	Enhancers	NH-A	brain
38	chr5:52340600-52341800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:52340600-52341800	Enhancers	Osteobl	bone
40	chr5:52340800-52341200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:52340800-52341200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr5:52340800-52341200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:52340800-52341200	Genic enhancers	HMEC	breast
44	chr5:52340800-52341400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr5:52340800-52341400	Enhancers	NHDF-Ad	bronchial
46	chr5:52341000-52341400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:52341000-52341400	Enhancers	Dnd41	blood
48	chr5:52341000-52341400	Flanking Active TSS	HUVEC	blood vessel
49	chr5:52341200-52341400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:52341200-52343000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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