Variant report

Variant	nsv968913
Chromosome Location	chr5:52495296-52509384
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	ATF1	chr5:52496378-52496405	K562	blood:	n/a	n/a
2	BATF	chr5:52507674-52507927	GM12878	blood:	n/a	chr5:52507794-52507805
3	BATF	chr5:52507703-52507918	GM12878	blood:	n/a	chr5:52507794-52507805
4	BHLHE40	chr5:52497763-52497949	K562	blood:	n/a	n/a
5	CEBPB	chr5:52500077-52500200	K562	blood:	n/a	chr5:52500137-52500148
6	CEBPB	chr5:52500030-52500264	HepG2	liver:	n/a	chr5:52500137-52500148
7	CEBPB	chr5:52495844-52495875	H1-hESC	embryonic stem cell:	n/a	chr5:52495858-52495869
8	CEBPB	chr5:52495713-52496009	K562	blood:	n/a	chr5:52495858-52495869
9	CEBPB	chr5:52507773-52507830	IMR90	lung:	n/a	n/a
10	CEBPB	chr5:52495710-52495995	A549	lung:	n/a	chr5:52495858-52495869
11	CEBPB	chr5:52495715-52496023	HepG2	liver:	n/a	chr5:52495858-52495869
12	CEBPB	chr5:52495712-52496013	IMR90	lung:	n/a	chr5:52495858-52495869
13	CEBPB	chr5:52495675-52496056	Hela-S3	cervix:	n/a	chr5:52495858-52495869
14	CTCF	chr5:52497740-52497890	GM12874	blood:	n/a	n/a
15	CTCF	chr5:52507734-52507800	A549	lung:	n/a	n/a
16	CTCF	chr5:52497660-52497810	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr5:52497676-52497861	HepG2	liver:	n/a	n/a
18	CTCF	chr5:52497720-52497870	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr5:52497680-52497830	BE2_C	brain:	n/a	n/a
20	CTCF	chr5:52497640-52497790	AoAF	blood vessel:	n/a	n/a
21	CTCF	chr5:52497682-52497840	GM19239	blood:	n/a	n/a
22	CTCF	chr5:52507698-52507830	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr5:52497640-52497790	BJ	skin:	n/a	n/a
24	CTCF	chr5:52497660-52497810	GM12869	blood:	n/a	n/a
25	CTCF	chr5:52497572-52497910	K562	blood:	n/a	n/a
26	CTCF	chr5:52497680-52497830	HCT-116	colon:	n/a	n/a
27	CTCF	chr5:52497680-52497830	GM12864	blood:	n/a	n/a
28	CTCF	chr5:52497660-52497810	HVMF	connective:	n/a	n/a
29	CTCF	chr5:52497740-52497890	HRPEpiC	eye:	n/a	n/a
30	CTCF	chr5:52497680-52497830	HEK293	kidney:	n/a	n/a
31	CTCF	chr5:52497640-52497790	HBMEC	blood vessel:	n/a	n/a
32	CTCF	chr5:52507730-52507816	GM19239	blood:	n/a	n/a
33	CTCF	chr5:52497717-52497817	GM10266	blood:	n/a	n/a
34	CTCF	chr5:52497681-52497844	MCF-7	breast:	n/a	n/a
35	CTCF	chr5:52497700-52497850	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr5:52497722-52497772	GM10248	blood:	n/a	n/a
37	CTCF	chr5:52497511-52497903	A549	lung:	n/a	n/a
38	CTCF	chr5:52497680-52497830	HVMF	connective:	n/a	n/a
39	CTCF	chr5:52497660-52497810	HPF	lung:	n/a	n/a
40	CTCF	chr5:52497680-52497830	RPTEC	kidney:	n/a	n/a
41	CTCF	chr5:52507720-52507870	HepG2	liver:	n/a	n/a
42	CTCF	chr5:52497720-52497870	HMF	breast:	n/a	n/a
43	CTCF	chr5:52497700-52497850	GM12868	blood:	n/a	n/a
44	CTCF	chr5:52497640-52497790	GM12865	blood:	n/a	n/a
45	CTCF	chr5:52497720-52497870	NHEK	skin:	n/a	n/a
46	CTCF	chr5:52497666-52497824	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr5:52497720-52497870	AoAF	blood vessel:	n/a	n/a
48	CTCF	chr5:52497680-52497830	GM12875	blood:	n/a	n/a
49	CTCF	chr5:52497622-52497863	HepG2	liver:	n/a	n/a
50	CTCF	chr5:52497692-52497826	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52419531..52420160-chr5:52497344..52497892,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213940	TF binding region

Extended variants
information (count: 634 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:634 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10471842	chr5:52495345-52495346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs13153694	chr5:52495361-52495362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs539204394	chr5:52495372-52495373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112044336	chr5:52495373-52495374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375776495	chr5:52495374-52495375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71598836	chr5:52495375-52495376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35614575	chr5:52495396-52495397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs173844	chr5:52495401-52495402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs76554215	chr5:52495416-52495417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369231407	chr5:52495454-52495455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185059061	chr5:52495536-52495537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187424309	chr5:52495559-52495560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562554690	chr5:52495652-52495653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77057808	chr5:52495657-52495658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533007960	chr5:52495661-52495662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs254481	chr5:52495682-52495683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs560227422	chr5:52495683-52495684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369791907	chr5:52495714-52495715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565971451	chr5:52495744-52495745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145282718	chr5:52495793-52495794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10471843	chr5:52495801-52495802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs574764505	chr5:52495830-52495831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567341357	chr5:52495838-52495839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539640153	chr5:52495926-52495927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531584303	chr5:52495949-52495950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549892835	chr5:52495982-52495983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571406359	chr5:52495983-52495984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538905066	chr5:52496044-52496045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552077935	chr5:52496067-52496068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554354441	chr5:52496078-52496079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566095836	chr5:52496118-52496119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192323919	chr5:52496146-52496147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184714946	chr5:52496201-52496202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142481859	chr5:52496223-52496224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528033057	chr5:52496226-52496227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573713538	chr5:52496236-52496237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189500290	chr5:52496257-52496258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145092444	chr5:52496273-52496274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570236799	chr5:52496291-52496292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577656020	chr5:52496320-52496321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534694147	chr5:52496324-52496325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117486285	chr5:52496328-52496329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180832049	chr5:52496338-52496339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184623793	chr5:52496352-52496353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189493917	chr5:52496389-52496390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537469511	chr5:52496398-52496399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368951629	chr5:52496409-52496410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113551206	chr5:52496414-52496415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531644629	chr5:52496421-52496422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117829992	chr5:52496427-52496428	Weak transcription Enhancers	n/a	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52489000-52507000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:52489600-52507800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:52491000-52496000	Weak transcription	Hela-S3	cervix
4	chr5:52495200-52496000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:52496000-52496400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:52496000-52496400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:52496000-52496400	Enhancers	Fetal Lung	lung
8	chr5:52496000-52496400	Enhancers	Dnd41	blood
9	chr5:52496000-52496600	Enhancers	Adipose Nuclei	Adipose
10	chr5:52496000-52496800	Enhancers	Hela-S3	cervix
11	chr5:52506800-52508200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:52506800-52508200	Enhancers	HMEC	breast
13	chr5:52506800-52508200	Enhancers	NHEK	skin
14	chr5:52507000-52507400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:52507000-52507400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:52507000-52508200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:52507400-52507800	Enhancers	HUVEC	blood vessel
18	chr5:52507400-52508200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr5:52507400-52508200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:52507400-52508400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:52507800-52508000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:52508200-52508400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:52508200-52509600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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