Variant report

Variant	nsv964853
Chromosome Location	chr5:54152984-54154835
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:54154281-54154334	Spleen_OC	spleen:	n/a	n/a
2	KAP1	chr5:54153554-54154093	HEK293	kidney:	n/a	n/a
3	KAP1	chr5:54153675-54154025	U2OS	brain:	n/a	n/a
4	SETDB1	chr5:54153373-54154194	U2OS	brain:	n/a	n/a
5	ZNF143	chr5:54153730-54153926	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GZMK-3	chr5:54153100-54154319	NONHSAT101457
2	lnc-GZMK-3	chr5:54152968-54153294	NONHSAT101456

Variant related genes	Relation type
ENSG00000221073	TF binding region
ENSG00000226810	TF binding region

Extended variants
information (count: 80 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542582854	chr5:54152995-54152996	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs377579066	chr5:54153012-54153013	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs35499198	chr5:54153013-54153014	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs35805787	chr5:54153034-54153035	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs534768798	chr5:54153066-54153067	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs143241892	chr5:54153103-54153104	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs532723191	chr5:54153127-54153128	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs60591956	chr5:54153131-54153132	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs185904569	chr5:54153175-54153176	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs116346606	chr5:54153184-54153185	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs200532106	chr5:54153240-54153241	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs548555211	chr5:54153242-54153243	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs577579351	chr5:54153319-54153320	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs374351505	chr5:54153384-54153385	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs531039706	chr5:54153449-54153450	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs538631694	chr5:54153450-54153451	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs552227000	chr5:54153461-54153462	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs571126814	chr5:54153518-54153519	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs538433225	chr5:54153561-54153562	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs556964283	chr5:54153570-54153571	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs117107463	chr5:54153588-54153589	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs139657913	chr5:54153621-54153622	ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs535906346	chr5:54153626-54153627	ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs554556772	chr5:54153651-54153652	ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs575928928	chr5:54153673-54153674	ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs142946141	chr5:54153708-54153709	ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs113608730	chr5:54153709-54153710	ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs558650733	chr5:54153784-54153785	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
29	rs573780558	chr5:54153785-54153786	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
30	rs541640622	chr5:54153786-54153787	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
31	rs560130062	chr5:54153787-54153788	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
32	rs540739681	chr5:54153801-54153802	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
33	rs10040872	chr5:54153803-54153804	ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs528543230	chr5:54153828-54153829	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
35	rs542112261	chr5:54153842-54153843	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
36	rs563724653	chr5:54153876-54153877	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
37	rs530780211	chr5:54153910-54153911	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
38	rs552290210	chr5:54153911-54153912	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
39	rs115403039	chr5:54153930-54153931	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
40	rs532218649	chr5:54153931-54153932	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
41	rs547177746	chr5:54153954-54153955	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
42	rs190719288	chr5:54153988-54153989	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
43	rs530593878	chr5:54154033-54154034	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
44	rs536549053	chr5:54154051-54154052	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
45	rs182248204	chr5:54154081-54154082	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
46	rs569647634	chr5:54154127-54154128	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
47	rs537028612	chr5:54154128-54154129	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
48	rs558714025	chr5:54154161-54154162	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
49	rs116751827	chr5:54154162-54154163	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
50	rs534665371	chr5:54154185-54154186	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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	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
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54153600-54154400	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr5:54154000-54155400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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