Variant report

Variant	nsv597738
Chromosome Location	chr5:28811789-28902826
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	ARID3A	chr5:28862973-28863184	HepG2	liver:	n/a	n/a
2	BHLHE40	chr5:28814502-28814623	K562	blood:	n/a	n/a
3	BHLHE40	chr5:28816335-28816476	K562	blood:	n/a	n/a
4	BRCA1	chr5:28815213-28815234	Hela-S3	cervix:	n/a	n/a
5	CBX3	chr5:28823373-28823651	K562	blood:	n/a	n/a
6	CBX3	chr5:28823321-28823730	K562	blood:	n/a	n/a
7	CCNT2	chr5:28816425-28816641	K562	blood:	n/a	n/a
8	CEBPB	chr5:28834515-28834730	K562	blood:	n/a	chr5:28834587-28834598
9	CEBPB	chr5:28828802-28828896	A549	lung:	n/a	n/a
10	CEBPB	chr5:28831210-28831505	K562	blood:	n/a	chr5:28831343-28831354
11	CEBPB	chr5:28862960-28863277	HepG2	liver:	n/a	n/a
12	CEBPB	chr5:28818678-28818966	HepG2	liver:	n/a	chr5:28818791-28818802
13	CEBPB	chr5:28896561-28896803	K562	blood:	n/a	n/a
14	CEBPB	chr5:28831182-28831450	H1-hESC	embryonic stem cell:	n/a	chr5:28831343-28831354
15	CEBPB	chr5:28831202-28831533	HepG2	liver:	n/a	chr5:28831343-28831354
16	CEBPB	chr5:28850602-28850862	K562	blood:	n/a	n/a
17	CEBPB	chr5:28818648-28818936	K562	blood:	n/a	chr5:28818791-28818802
18	CEBPB	chr5:28831177-28831503	A549	lung:	n/a	chr5:28831343-28831354
19	CEBPB	chr5:28834436-28834676	HepG2	liver:	n/a	chr5:28834587-28834598
20	CTCF	chr5:28897100-28897250	MCF-7	breast:	n/a	n/a
21	CTCF	chr5:28897080-28897230	RPTEC	kidney:	n/a	n/a
22	CTCF	chr5:28897057-28897512	MCF-7	breast:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
23	CTCF	chr5:28897120-28897270	HRE	kidney:	n/a	n/a
24	CTCF	chr5:28897107-28897390	GM12878	blood:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
25	CTCF	chr5:28897160-28897310	HRPEpiC	eye:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
26	CTCF	chr5:28861580-28861730	MCF-7	breast:	n/a	n/a
27	CTCF	chr5:28897003-28897619	A549	lung:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
28	CTCF	chr5:28897200-28897350	HA-sp	spinal cord:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
29	CTCF	chr5:28897160-28897310	Hela-S3	cervix:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
30	CTCF	chr5:28896938-28896973	K562	blood:	n/a	n/a
31	CTCF	chr5:28897380-28897530	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr5:28830860-28831010	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr5:28897220-28897370	HCPEpiC	choroid plexus:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
34	CTCF	chr5:28814021-28814081	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr5:28821150-28821198	GM20000	blood:	n/a	n/a
36	CTCF	chr5:28897140-28897290	HMEC	breast:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
37	CTCF	chr5:28897260-28897410	HA-sp	spinal cord:	n/a	n/a
38	CTCF	chr5:28897180-28897330	HBMEC	blood vessel:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
39	CTCF	chr5:28897195-28897367	LNCaP	prostate:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
40	CTCF	chr5:28883480-28883630	GM12867	blood:	n/a	n/a
41	CTCF	chr5:28897180-28897330	HCPEpiC	choroid plexus:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
42	CTCF	chr5:28897140-28897290	Hela-S3	cervix:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
43	CTCF	chr5:28897180-28897330	HRPEpiC	eye:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
44	CTCF	chr5:28897280-28897430	HAc	cerebellar:	n/a	n/a
45	CTCF	chr5:28816580-28816730	Caco-2	colon:	n/a	n/a
46	CTCF	chr5:28897140-28897290	HepG2	liver:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
47	CTCF	chr5:28812248-28812293	K562	blood:	n/a	n/a
48	CTCF	chr5:28897198-28897363	LNCaP	prostate:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
49	CTCF	chr5:28897340-28897490	RPTEC	kidney:	n/a	n/a
50	CTCF	chr5:28897148-28897374	Medullo	brain:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272

No.	Distal block	Cell Line	Cell type
1	chr5:28805163..28807259-chr5:28812094..28813798,2	K562	blood:
2	chr5:28836092..28838497-chr5:28839805..28842751,2	MCF-7	breast:
3	chr5:28823907..28826639-chr5:28834141..28835828,2	K562	blood:
4	chr5:28878210..28880658-chr5:28883353..28885115,2	K562	blood:
5	chr5:28898397..28901228-chr5:28905919..28907829,2	K562	blood:
6	chr5:28808352..28811830-chr5:28882168..28885526,3	K562	blood:
7	chr5:28816134..28818756-chr5:28819776..28822041,3	K562	blood:
8	chr5:28816134..28818756-chr5:28819776..28822041,3	K562	blood:
9	chr5:28848991..28851784-chr5:28856691..28858212,2	K562	blood:
10	chr5:28806282..28808048-chr5:28853726..28856182,2	K562	blood:
11	chr5:28836092..28838497-chr5:28839805..28842751,2	MCF-7	breast:
12	chr5:28811938..28814493-chr5:28819966..28823203,3	K562	blood:
13	chr5:28878210..28880658-chr5:28883353..28885115,2	K562	blood:
14	chr5:28848991..28851784-chr5:28856691..28858212,2	K562	blood:
15	chr5:28827388..28830378-chr5:28832041..28834686,2	K562	blood:
16	chr5:28882757..28885638-chr5:28890766..28893255,2	K562	blood:
17	chr5:28811938..28814493-chr5:28819966..28823203,3	K562	blood:
18	chr5:28765020..28766870-chr5:28809812..28812642,2	K562	blood:
19	chr5:28779022..28779987-chr5:28896759..28897898,5	MCF-7	breast:
20	chr5:28808032..28811102-chr5:28813971..28817710,5	K562	blood:
21	chr5:28892844..28895321-chr5:28897758..28899346,2	K562	blood:
22	chr5:28823907..28826639-chr5:28834141..28835828,2	K562	blood:
23	chr5:28882757..28885638-chr5:28890766..28893255,2	K562	blood:
24	chr5:28827388..28830378-chr5:28832041..28834686,2	K562	blood:
25	chr5:28826049..28828145-chr5:28828270..28829851,2	K562	blood:
26	chr5:28826049..28828145-chr5:28828270..28829851,2	K562	blood:
27	chr5:28851055..28851753-chr7:86185395..86186230,2	MCF-7	breast:
28	chr5:28743630..28746249-chr5:28809920..28812616,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH9-12	chr5:28897892-28898381	NONHSAT100823
2	lnc-CDH6-15	chr5:28900872-28902541	NONHSAT100824

Variant related genes	Relation type
ENSG00000271035	TF binding region
ENSG00000250453	TF binding region
ENSG00000270495	chromatin interactions
ENSG00000271035	chromatin interactions
ENSG00000250453	chromatin interactions

Extended variants
information (count: 1049 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1049 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2548010	chr5:28811789-28811790	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557870070	chr5:28811804-28811805	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs57596507	chr5:28811871-28811872	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540063846	chr5:28811933-28811934	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs577981544	chr5:28811941-28811942	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs573852527	chr5:28812025-28812026	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs137964546	chr5:28812079-28812080	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs149459513	chr5:28812080-28812081	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs532999374	chr5:28812101-28812102	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs143002063	chr5:28812114-28812115	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs190642570	chr5:28812119-28812120	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs528683476	chr5:28812137-28812138	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs547139774	chr5:28812158-28812159	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs59485874	chr5:28812245-28812246	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs553907962	chr5:28812293-28812294	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs536097357	chr5:28812324-28812325	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs550997931	chr5:28812331-28812332	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs368992674	chr5:28812337-28812338	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs367605037	chr5:28812375-28812376	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs146174123	chr5:28812376-28812377	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs573896624	chr5:28812380-28812381	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs12153411	chr5:28812426-28812427	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs148284403	chr5:28812495-28812496	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs557806666	chr5:28812497-28812498	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs573033968	chr5:28812552-28812553	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs34923612	chr5:28812615-28812616	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs372525614	chr5:28812724-28812725	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs2554913	chr5:28812747-28812748	Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs369409071	chr5:28812748-28812749	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs17611424	chr5:28812775-28812776	Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs548308793	chr5:28812798-28812799	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs34435570	chr5:28812802-28812803	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs544486691	chr5:28812824-28812825	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs199822718	chr5:28812826-28812827	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs562689221	chr5:28812832-28812833	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs576416215	chr5:28812841-28812842	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs577693163	chr5:28812843-28812844	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs545058156	chr5:28812907-28812908	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs141413531	chr5:28812909-28812910	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs3792899	chr5:28812987-28812988	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs112509846	chr5:28813080-28813081	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs12520538	chr5:28813097-28813098	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs139023199	chr5:28813166-28813167	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs186766523	chr5:28813168-28813169	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs148102535	chr5:28813222-28813223	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs191210313	chr5:28813271-28813272	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs529500842	chr5:28813274-28813275	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs551252130	chr5:28813291-28813292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370847457	chr5:28813295-28813296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143341529	chr5:28813316-28813317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	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

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28806200-28813200	Active TSS	K562	blood
2	chr5:28813200-28816600	Weak transcription	K562	blood
3	chr5:28822200-28822800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:28823200-28823800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:28825600-28827000	Enhancers	Fetal Heart	heart
6	chr5:28857600-28859800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:28859800-28860000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:28860000-28861600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:28861400-28862600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:28861600-28862000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:28862000-28862400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:28862200-28863000	Enhancers	HepG2	liver
13	chr5:28862400-28863600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:28863600-28864200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:28876800-28877400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:28884200-28889600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:28897400-28898600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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