Variant report

Variant	nsv881236
Chromosome Location	chr5:51861437-51886039
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	CEBPB	chr5:51874644-51874985	IMR90	lung:	n/a	n/a
2	CEBPB	chr5:51874687-51874976	A549	lung:	n/a	n/a
3	CEBPB	chr5:51882978-51883334	IMR90	lung:	n/a	chr5:51883144-51883155
4	CEBPB	chr5:51873359-51873726	IMR90	lung:	n/a	n/a
5	CEBPB	chr5:51883011-51883319	K562	blood:	n/a	chr5:51883144-51883155
6	CEBPB	chr5:51876026-51876304	A549	lung:	n/a	chr5:51876152-51876163
7	CEBPB	chr5:51874504-51874989	HepG2	liver:	n/a	chr5:51874505-51874516 chr5:51874505-51874518 chr5:51874505-51874518 chr5:51874505-51874516
8	CEBPB	chr5:51873362-51873704	A549	lung:	n/a	n/a
9	CEBPB	chr5:51875989-51876296	HepG2	liver:	n/a	chr5:51876152-51876163
10	CEBPB	chr5:51873456-51873616	K562	blood:	n/a	n/a
11	CEBPB	chr5:51873402-51873709	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr5:51875991-51876321	IMR90	lung:	n/a	chr5:51876152-51876163
13	CEBPB	chr5:51873362-51873725	HepG2	liver:	n/a	n/a
14	CEBPB	chr5:51883014-51883298	A549	lung:	n/a	chr5:51883144-51883155
15	CEBPB	chr5:51882983-51883319	HepG2	liver:	n/a	chr5:51883144-51883155
16	CEBPB	chr5:51883016-51883288	Hela-S3	cervix:	n/a	chr5:51883144-51883155
17	CEBPB	chr5:51873424-51873708	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr5:51878220-51878370	HFF	foreskin:	n/a	n/a
19	CTCF	chr5:51876961-51876977	Fibrobl	skin:	n/a	n/a
20	CTCF	chr5:51878302-51878380	GM10266	blood:	n/a	n/a
21	CTCF	chr5:51878260-51878410	BJ	skin:	n/a	n/a
22	CTCF	chr5:51878200-51878350	GM12870	blood:	n/a	n/a
23	CTCF	chr5:51878286-51878408	A549	lung:	n/a	n/a
24	CTCF	chr5:51878240-51878390	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr5:51878220-51878370	GM12875	blood:	n/a	n/a
26	CTCF	chr5:51878200-51878350	GM12874	blood:	n/a	n/a
27	CTCF	chr5:51878280-51878430	HFF-Myc	foreskin:	n/a	n/a
28	CTCF	chr5:51878120-51878270	HVMF	connective:	n/a	n/a
29	CTCF	chr5:51878300-51878450	GM12871	blood:	n/a	n/a
30	CTCF	chr5:51878260-51878410	AG04449	skin:	n/a	n/a
31	CTCF	chr5:51878280-51878430	AG09309	skin:	n/a	n/a
32	CTCF	chr5:51878283-51878367	GM10248	blood:	n/a	n/a
33	CTCF	chr5:51878262-51878393	Fibrobl	skin:	n/a	n/a
34	CTCF	chr5:51878280-51878430	GM06990	blood:	n/a	n/a
35	CTCF	chr5:51878300-51878450	AG10803	skin:	n/a	n/a
36	CTCF	chr5:51878340-51878490	GM12872	blood:	n/a	n/a
37	CTCF	chr5:51878260-51878410	NHEK	skin:	n/a	n/a
38	CTCF	chr5:51878228-51878419	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr5:51865639-51865679	LNCaP	prostate:	n/a	n/a
40	CTCF	chr5:51878280-51878430	Caco-2	colon:	n/a	n/a
41	CTCF	chr5:51878280-51878430	HVMF	connective:	n/a	n/a
42	CTCF	chr5:51878257-51878427	HepG2	liver:	n/a	n/a
43	CTCF	chr5:51876880-51877030	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr5:51878294-51878348	GM20000	blood:	n/a	n/a
45	CTCF	chr5:51878280-51878430	GM12878	blood:	n/a	n/a
46	CTCF	chr5:51878256-51878434	Gliobla	brain:	n/a	n/a
47	CTCF	chr5:51878300-51878450	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr5:51878700-51878850	GM06990	blood:	n/a	n/a
49	CTCF	chr5:51878240-51878390	A549	lung:	n/a	n/a
50	CTCF	chr5:51878260-51878410	GM12873	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MOCS2-6	chr5:51875389-51876940	NONHSAT101408

Variant related genes	Relation type
ENSG00000250827	TF binding region

Extended variants
information (count: 131 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375986809	chr5:51867800-51867801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532574415	chr5:51867827-51867828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143581276	chr5:51867836-51867837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566164707	chr5:51867863-51867864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536375727	chr5:51867906-51867907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576265244	chr5:51867927-51867928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540164477	chr5:51867955-51867956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185065283	chr5:51867979-51867980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543398969	chr5:51868028-51868029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537708783	chr5:51868056-51868057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78595367	chr5:51868074-51868075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577187927	chr5:51868082-51868083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538261232	chr5:51868101-51868102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143595983	chr5:51868156-51868157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146581841	chr5:51868157-51868158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369436446	chr5:51868209-51868210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs16879910	chr5:51868227-51868228	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs561099518	chr5:51868352-51868353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191035955	chr5:51868367-51868368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17203602	chr5:51868393-51868394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543675594	chr5:51868394-51868395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376663569	chr5:51868414-51868415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183268030	chr5:51868420-51868421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532484501	chr5:51868440-51868441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188859591	chr5:51868455-51868456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374902285	chr5:51868457-51868458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559833536	chr5:51868470-51868471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139123927	chr5:51868496-51868497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548402638	chr5:51868511-51868512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570184929	chr5:51868580-51868581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143028637	chr5:51868600-51868601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115513478	chr5:51875398-51875399	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs556952519	chr5:51875410-51875411	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs577446860	chr5:51875432-51875433	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs34634410	chr5:51875435-51875436	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs186006035	chr5:51875483-51875484	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs537228059	chr5:51875485-51875486	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs558816380	chr5:51875512-51875513	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs577061903	chr5:51875532-51875533	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs16879921	chr5:51875547-51875548	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs553050305	chr5:51875619-51875620	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs144479334	chr5:51875626-51875627	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs16879923	chr5:51875649-51875650	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs57599509	chr5:51875657-51875658	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs575365913	chr5:51875713-51875714	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs142502233	chr5:51875718-51875719	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs564746912	chr5:51875738-51875739	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs190583793	chr5:51875757-51875758	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs540927070	chr5:51875762-51875763	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs182370149	chr5:51875783-51875784	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:51867800-51868600	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr5:51875600-51876000	Enhancers	HMEC	breast
3	chr5:51876000-51876400	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr5:51876200-51876600	Enhancers	HMEC	breast
5	chr5:51876400-51876600	Enhancers	Gastric	stomach
6	chr5:51876400-51877000	Enhancers	Left Ventricle	heart
7	chr5:51880000-51880200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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