Variant report

Variant	nsv1024194
Chromosome Location	chr5:29069765-29082654
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:107)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:107 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:29070987-29071060	K562	blood:	n/a	n/a
2	BRCA1	chr5:29077488-29077830	Hela-S3	cervix:	n/a	n/a
3	CCNT2	chr5:29079757-29080002	K562	blood:	n/a	n/a
4	CEBPB	chr5:29072750-29072805	HepG2	liver:	n/a	chr5:29072772-29072783
5	CEBPB	chr5:29077957-29078214	A549	lung:	n/a	n/a
6	CEBPB	chr5:29077432-29078233	Hela-S3	cervix:	n/a	n/a
7	CHD2	chr5:29077610-29077959	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr5:29079997-29080028	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr5:29079972-29080131	MCF-7	breast:	n/a	n/a
10	CTCF	chr5:29079960-29080110	HepG2	liver:	n/a	n/a
11	CTCF	chr5:29080011-29080049	GM13976	blood:	n/a	n/a
12	CTCF	chr5:29079940-29080090	GM12874	blood:	n/a	n/a
13	CTCF	chr5:29079960-29080110	GM12866	blood:	n/a	n/a
14	CTCF	chr5:29079895-29080131	HepG2	liver:	n/a	n/a
15	CTCF	chr5:29079940-29080090	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr5:29080000-29080150	A549	lung:	n/a	n/a
17	CTCF	chr5:29080020-29080170	HBMEC	blood vessel:	n/a	n/a
18	CTCF	chr5:29079960-29080110	MCF-7	breast:	n/a	n/a
19	CTCF	chr5:29079988-29080113	A549	lung:	n/a	n/a
20	CTCF	chr5:29080000-29080150	RPTEC	kidney:	n/a	n/a
21	CTCF	chr5:29079960-29080110	BE2_C	brain:	n/a	n/a
22	CTCF	chr5:29080000-29080150	BE2_C	brain:	n/a	n/a
23	CTCF	chr5:29079949-29080141	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr5:29079968-29080103	LNCaP	prostate:	n/a	n/a
25	CTCF	chr5:29079979-29080122	Gliobla	brain:	n/a	n/a
26	CTCF	chr5:29079877-29080217	GM12878	blood:	n/a	n/a
27	CTCF	chr5:29079880-29080030	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr5:29079993-29080068	NHEK	skin:	n/a	n/a
29	CTCF	chr5:29079940-29080090	MCF-7	breast:	n/a	n/a
30	CTCF	chr5:29080000-29080150	GM12871	blood:	n/a	n/a
31	CTCF	chr5:29079960-29080110	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr5:29079990-29080039	Kidney_OC	kidney:	n/a	n/a
33	CTCF	chr5:29080000-29080150	NB4	blood:	n/a	n/a
34	CTCF	chr5:29079940-29080090	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr5:29079960-29080110	HEK293	kidney:	n/a	n/a
36	CTCF	chr5:29079945-29080142	MCF-7	breast:	n/a	n/a
37	CTCF	chr5:29079779-29080257	MCF-7	breast:	n/a	n/a
38	CTCF	chr5:29079900-29080050	HCPEpiC	choroid plexus:	n/a	n/a
39	CTCF	chr5:29079880-29080030	HRPEpiC	eye:	n/a	n/a
40	CTCF	chr5:29079960-29080110	GM12875	blood:	n/a	n/a
41	CTCF	chr5:29079910-29080169	MCF-7	breast:	n/a	n/a
42	CTCF	chr5:29080000-29080150	K562	blood:	n/a	n/a
43	CTCF	chr5:29079951-29080141	HepG2	liver:	n/a	n/a
44	CTCF	chr5:29079962-29080076	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr5:29079940-29080090	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr5:29079825-29080198	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr5:29079980-29080134	GM12878	blood:	n/a	n/a
48	CTCF	chr5:29079960-29080110	RPTEC	kidney:	n/a	n/a
49	CTCF	chr5:29081691-29081727	GM10266	blood:	n/a	n/a
50	CTCF	chr5:29079874-29080217	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH6-3	chr5:29073007-29073330	NR_109948
2	lnc-CDH6-3	chr5:29066381-29070363	ENSG00000249322
3	lnc-CDH6-3	chr5:29066381-29070363	NR_109948
4	lnc-CDH6-3	chr5:29073007-29073329	ENSG00000249322

No data

Variant related genes	Relation type
ENSG00000252601	TF binding region
FOXD1	miRNA target sites
CBFB	miRNA target sites

Extended variants
information (count: 136 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528778714	chr5:29069795-29069796	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs73747184	chr5:29069819-29069820	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs544296774	chr5:29069845-29069846	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs546941115	chr5:29069854-29069855	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs568724365	chr5:29069872-29069873	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs147514672	chr5:29069901-29069902	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs527826714	chr5:29069920-29069921	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs541114381	chr5:29069943-29069944	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs557323061	chr5:29069986-29069987	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs569416766	chr5:29070006-29070007	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs539901854	chr5:29070016-29070017	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs557987828	chr5:29070034-29070035	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs160306	chr5:29070094-29070095	Active TSS Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs57512264	chr5:29070129-29070130	Active TSS Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs117120997	chr5:29070156-29070157	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs181324605	chr5:29070175-29070176	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs573874981	chr5:29070182-29070183	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs6859756	chr5:29070193-29070194	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs61341566	chr5:29070203-29070204	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs552102365	chr5:29070221-29070222	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs140042993	chr5:29070293-29070294	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs530061269	chr5:29070308-29070309	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs577320114	chr5:29070310-29070311	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs62353939	chr5:29070333-29070334	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs112656347	chr5:29070334-29070335	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs145135703	chr5:29070343-29070344	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs569068921	chr5:29070364-29070365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142304192	chr5:29070384-29070385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72279064	chr5:29070395-29070396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201818957	chr5:29070396-29070397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143070676	chr5:29070441-29070442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs57098755	chr5:29070444-29070445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs160305	chr5:29070491-29070492	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs59114642	chr5:29070504-29070505	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs184641792	chr5:29070575-29070576	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs143950389	chr5:29070582-29070583	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs550709612	chr5:29070590-29070591	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs13359014	chr5:29070593-29070594	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs539961476	chr5:29070602-29070603	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs142054241	chr5:29070626-29070627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76976404	chr5:29070639-29070640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566948438	chr5:29070641-29070642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533793289	chr5:29070710-29070711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555527913	chr5:29070719-29070720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188656826	chr5:29070792-29070793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115999511	chr5:29073016-29073017	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs185630314	chr5:29073044-29073045	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs554257251	chr5:29073058-29073059	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs569776026	chr5:29073064-29073065	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs537095773	chr5:29073121-29073122	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
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
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
Chronic lymphocytic leukemia	21546498	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
Breast cancer	20409316	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29068400-29070200	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr5:29069600-29070800	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr5:29077400-29078000	Enhancers	A549	lung
4	chr5:29077400-29078400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:29077400-29078400	Enhancers	Hela-S3	cervix
6	chr5:29077600-29078000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:29079200-29080000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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