Variant report

Variant	nsv881119
Chromosome Location	chr5:28610734-28732126
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	chr5:28629799-28629979	K562	blood:	n/a	n/a
2	ATF1	chr5:28710259-28710312	K562	blood:	n/a	n/a
3	ATF1	chr5:28727124-28727126	K562	blood:	n/a	n/a
4	ATF1	chr5:28633929-28634173	K562	blood:	n/a	n/a
5	BHLHE40	chr5:28636212-28636238	GM12878	blood:	n/a	n/a
6	BRCA1	chr5:28727024-28727297	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr5:28703785-28704059	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr5:28713573-28713854	A549	lung:	n/a	n/a
9	CEBPB	chr5:28676298-28676468	K562	blood:	n/a	chr5:28676367-28676380 chr5:28676369-28676380 chr5:28676369-28676378 chr5:28676367-28676378
10	CEBPB	chr5:28676283-28676521	IMR90	lung:	n/a	chr5:28676367-28676380 chr5:28676369-28676380 chr5:28676369-28676378 chr5:28676367-28676378
11	CEBPB	chr5:28635154-28635436	A549	lung:	n/a	chr5:28635327-28635338 chr5:28635327-28635340 chr5:28635327-28635340 chr5:28635329-28635340 chr5:28635329-28635338
12	CEBPB	chr5:28726780-28727310	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr5:28708665-28708964	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr5:28623857-28624057	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr5:28635155-28635484	HepG2	liver:	n/a	chr5:28635327-28635338 chr5:28635327-28635340 chr5:28635327-28635340 chr5:28635329-28635340 chr5:28635329-28635338
16	CEBPB	chr5:28708731-28708929	A549	lung:	n/a	n/a
17	CEBPB	chr5:28676292-28676416	H1-hESC	embryonic stem cell:	n/a	chr5:28676367-28676380 chr5:28676369-28676380 chr5:28676369-28676378 chr5:28676367-28676378
18	CEBPB	chr5:28676243-28676489	HepG2	liver:	n/a	chr5:28676367-28676380 chr5:28676369-28676380 chr5:28676369-28676378 chr5:28676367-28676378
19	CEBPB	chr5:28635207-28635437	K562	blood:	n/a	chr5:28635327-28635338 chr5:28635327-28635340 chr5:28635327-28635340 chr5:28635329-28635340 chr5:28635329-28635338
20	CEBPB	chr5:28635196-28635424	Hela-S3	cervix:	n/a	chr5:28635327-28635338 chr5:28635327-28635340 chr5:28635327-28635340 chr5:28635329-28635340 chr5:28635329-28635338
21	CEBPB	chr5:28708674-28708931	MCF-7	breast:	n/a	n/a
22	CEBPB	chr5:28703848-28703955	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr5:28686057-28686307	HepG2	liver:	n/a	n/a
24	CTCF	chr5:28648300-28648450	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr5:28710580-28710730	HEEpiC	esophagus:	n/a	n/a
26	CTCF	chr5:28648300-28648450	WERI-Rb-1	eye:	n/a	n/a
27	CTCF	chr5:28710600-28710750	NB4	blood:	n/a	n/a
28	CTCF	chr5:28710640-28710790	HAc	cerebellar:	n/a	n/a
29	CTCF	chr5:28648300-28648450	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr5:28710600-28710750	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr5:28710600-28710750	RPTEC	kidney:	n/a	n/a
32	CTCF	chr5:28633965-28634101	MCF-7	breast:	n/a	n/a
33	CTCF	chr5:28633920-28634070	HEEpiC	esophagus:	n/a	n/a
34	CTCF	chr5:28648360-28648510	HAc	cerebellar:	n/a	n/a
35	CTCF	chr5:28710520-28710670	RPTEC	kidney:	n/a	n/a
36	CTCF	chr5:28710540-28710690	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr5:28634000-28634054	HepG2	liver:	n/a	n/a
38	CTCF	chr5:28710660-28710810	HEK293	kidney:	n/a	n/a
39	CTCF	chr5:28633860-28634010	K562	blood:	n/a	n/a
40	CTCF	chr5:28648325-28648444	Gliobla	brain:	n/a	n/a
41	CTCF	chr5:28670470-28670581	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr5:28621320-28621470	GM12869	blood:	n/a	n/a
43	CTCF	chr5:28723320-28723470	GM12865	blood:	n/a	n/a
44	CTCF	chr5:28648340-28648490	GM12873	blood:	n/a	n/a
45	CTCF	chr5:28670493-28670570	MCF-7	breast:	n/a	n/a
46	CTCF	chr5:28670440-28670590	MCF-7	breast:	n/a	n/a
47	CTCF	chr5:28710620-28710770	HRPEpiC	eye:	n/a	n/a
48	CTCF	chr5:28710633-28710758	Medullo	brain:	n/a	n/a
49	CTCF	chr5:28710614-28710741	MCF-7	breast:	n/a	n/a
50	CTCF	chr5:28648300-28648450	HPAF	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:28647172..28649912-chr5:28655483..28658266,2	K562	blood:
2	chr5:28708085..28710925-chr5:28712121..28714327,2	K562	blood:
3	chr5:28607591..28610399-chr5:28611364..28613106,2	K562	blood:
4	chr5:28666253..28668874-chr5:28670926..28672814,2	K562	blood:
5	chr5:28665183..28667336-chr5:28683760..28686377,2	K562	blood:
6	chr5:28708085..28710925-chr5:28712121..28714327,2	K562	blood:
7	chr5:28473399..28474025-chr5:28710323..28711039,2	MCF-7	breast:
8	chr5:28665183..28667336-chr5:28683760..28686377,2	K562	blood:
9	chr5:28622865..28624500-chr5:28625376..28628306,2	MCF-7	breast:
10	chr5:28666253..28668874-chr5:28670926..28672814,2	K562	blood:
11	chr17:57913887..57916844-chr5:28684524..28686984,2	MCF-7	breast:
12	chr5:28647172..28649912-chr5:28655483..28658266,2	K562	blood:
13	chr5:28622865..28624500-chr5:28625376..28628306,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH9-11	chr5:28629932-28630057	NONHSAT100819
2	lnc-CDH9-11	chr5:28625400-28625629	NONHSAT100819

Variant related genes	Relation type
RNU6-909P	TF binding region
ENSG00000062716	chromatin interactions

Extended variants
information (count: 708 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:708 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62359328	chr5:28612612-28612613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144646577	chr5:28612613-28612614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4449545	chr5:28612667-28612668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564604509	chr5:28612686-28612687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76019287	chr5:28612713-28612714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542148982	chr5:28612718-28612719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs151244085	chr5:28612741-28612742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377497116	chr5:28612742-28612743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567045671	chr5:28612760-28612761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534173908	chr5:28612788-28612789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562370802	chr5:28612797-28612798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140651128	chr5:28612813-28612814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572422504	chr5:28612827-28612828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575768179	chr5:28612888-28612889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370338519	chr5:28612902-28612903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576396065	chr5:28612960-28612961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556616693	chr5:28612969-28612970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182991663	chr5:28612973-28612974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112747996	chr5:28619917-28619918	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs538269164	chr5:28619952-28619953	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs115850374	chr5:28619975-28619976	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs556677345	chr5:28619980-28619981	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs548781875	chr5:28620006-28620007	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs537408377	chr5:28620290-28620291	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs542506392	chr5:28620291-28620292	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs554492674	chr5:28620298-28620299	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs114949400	chr5:28620301-28620302	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs4867148	chr5:28620309-28620310	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs181713520	chr5:28620316-28620317	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs532108945	chr5:28620342-28620343	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs200970714	chr5:28620384-28620385	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs560508622	chr5:28620385-28620386	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs72756412	chr5:28620413-28620414	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs188483215	chr5:28621367-28621368	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs576741152	chr5:28621371-28621372	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs534647575	chr5:28621384-28621385	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs547152376	chr5:28621385-28621386	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs4389700	chr5:28621394-28621395	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs574605645	chr5:28621400-28621401	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs562416272	chr5:28621402-28621403	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs543197889	chr5:28621462-28621463	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs6450653	chr5:28621468-28621469	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs528775564	chr5:28621650-28621651	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs144224247	chr5:28621673-28621674	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs548313682	chr5:28621708-28621709	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs140201430	chr5:28621743-28621744	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs548090927	chr5:28621781-28621782	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs537278687	chr5:28621784-28621785	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs7721464	chr5:28621787-28621788	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs145317641	chr5:28621842-28621843	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	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
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	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
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28612600-28613000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:28624600-28626600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:28636200-28636600	Active TSS	A549	lung
4	chr5:28637400-28637800	Active TSS	K562	blood
5	chr5:28648200-28648600	Enhancers	NH-A	brain
6	chr5:28667800-28669000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr5:28681200-28682200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:28685600-28686200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:28703600-28704600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:28703800-28704400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr5:28703800-28704400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:28703800-28704600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:28703800-28705200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:28704000-28704200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:28704000-28704600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:28704200-28704600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:28704200-28704600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:28704200-28704600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:28704200-28704600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:28711200-28711600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:28711600-28715000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:28715000-28715400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:28723800-28724200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:28726400-28727600	Enhancers	Hela-S3	cervix
25	chr5:28726600-28727600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:28728600-28728800	Enhancers	Liver	Liver
27	chr5:28728800-28729000	Flanking Active TSS	Liver	Liver
28	chr5:28729000-28729400	Active TSS	Liver	Liver
29	chr5:28729400-28730600	Enhancers	Liver	Liver
30	chr5:28732000-28732400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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