Variant report

Variant	esv1813470
Chromosome Location	chr5:28142099-28251294
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	BACH1	chr5:28187505-28187822	H1-hESC	embryonic stem cell:	n/a	n/a
2	BATF	chr5:28213539-28213888	GM12878	blood:	n/a	chr5:28213739-28213750
3	BATF	chr5:28213553-28213902	GM12878	blood:	n/a	chr5:28213739-28213750
4	BCL11A	chr5:28217210-28217480	GM12878	blood:	n/a	n/a
5	BCL11A	chr5:28217233-28217496	GM12878	blood:	n/a	n/a
6	BHLHE40	chr5:28158684-28158801	GM12878	blood:	n/a	n/a
7	BHLHE40	chr5:28217243-28217471	GM12878	blood:	n/a	n/a
8	BHLHE40	chr5:28234867-28234878	GM12878	blood:	n/a	n/a
9	BRCA1	chr5:28190095-28190272	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr5:28234631-28234632	GM12878	blood:	n/a	n/a
11	CCNT2	chr5:28152268-28152468	K562	blood:	n/a	n/a
12	CEBPB	chr5:28218748-28219015	K562	blood:	n/a	chr5:28218888-28218899
13	CEBPB	chr5:28218715-28219038	HepG2	liver:	n/a	chr5:28218888-28218899
14	CEBPB	chr5:28194833-28195179	HepG2	liver:	n/a	chr5:28194982-28194993
15	CEBPB	chr5:28202427-28202699	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr5:28222230-28222533	HepG2	liver:	n/a	chr5:28222361-28222372
17	CEBPB	chr5:28190131-28190367	A549	lung:	n/a	chr5:28190293-28190304 chr5:28190293-28190304
18	CEBPB	chr5:28142101-28142128	A549	lung:	n/a	n/a
19	CEBPB	chr5:28218733-28219051	Hela-S3	cervix:	n/a	chr5:28218888-28218899
20	CEBPB	chr5:28149586-28149849	HepG2	liver:	n/a	chr5:28149713-28149730 chr5:28149714-28149727 chr5:28149699-28149710 chr5:28149698-28149711 chr5:28149715-28149726
21	CEBPB	chr5:28194915-28195172	A549	lung:	n/a	chr5:28194982-28194993
22	CEBPB	chr5:28218772-28219073	IMR90	lung:	n/a	chr5:28218888-28218899
23	CEBPB	chr5:28209615-28209859	K562	blood:	n/a	chr5:28209729-28209740
24	CEBPB	chr5:28209552-28209914	HepG2	liver:	n/a	chr5:28209729-28209740
25	CEBPB	chr5:28215303-28215727	MCF-7	breast:	n/a	chr5:28215570-28215581
26	CEBPB	chr5:28209551-28209899	A549	lung:	n/a	chr5:28209729-28209740
27	CEBPB	chr5:28215280-28215719	MCF-7	breast:	n/a	chr5:28215570-28215581
28	CEBPB	chr5:28209564-28209904	IMR90	lung:	n/a	chr5:28209729-28209740
29	CEBPB	chr5:28218749-28219007	A549	lung:	n/a	chr5:28218888-28218899
30	CEBPB	chr5:28176926-28177004	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr5:28209689-28209881	H1-hESC	embryonic stem cell:	n/a	chr5:28209729-28209740
32	CEBPB	chr5:28149635-28149843	A549	lung:	n/a	chr5:28149713-28149730 chr5:28149714-28149727 chr5:28149699-28149710 chr5:28149698-28149711 chr5:28149715-28149726
33	CTCF	chr5:28177816-28177849	MCF-7	breast:	n/a	n/a
34	CTCF	chr5:28229901-28229917	MCF-7	breast:	n/a	n/a
35	CTCF	chr5:28188671-28188702	K562	blood:	n/a	n/a
36	CTCF	chr5:28188606-28188769	MCF-7	breast:	n/a	n/a
37	CTCF	chr5:28177760-28177910	HEEpiC	esophagus:	n/a	n/a
38	CTCF	chr5:28161366-28161389	GM13977	blood:	n/a	n/a
39	CTCF	chr5:28188663-28188693	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr5:28177794-28177809	MCF-7	breast:	n/a	n/a
41	CTCF	chr5:28197720-28197870	A549	lung:	n/a	n/a
42	CUX1	chr5:28164887-28164929	GM12878	blood:	n/a	n/a
43	E2F4	chr5:28202701-28202704	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr5:28204950-28205144	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr5:28244416-28244616	MCF10A-Er-Src	breast:	n/a	n/a
46	EBF1	chr5:28217099-28217491	GM12878	blood:	n/a	n/a
47	EBF1	chr5:28217211-28217545	GM12878	blood:	n/a	n/a
48	EBF1	chr5:28164875-28164896	GM12878	blood:	n/a	n/a
49	EBF1	chr5:28157973-28158346	GM12878	blood:	n/a	n/a
50	EBF1	chr5:28217174-28217479	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:28173448..28176167-chr5:28180789..28182716,2	K562	blood:
2	chr5:28234903..28236719-chr5:28238534..28240532,2	K562	blood:
3	chr10:58351002..58353905-chr5:28242920..28245430,2	MCF-7	breast:
4	chr5:28173448..28176167-chr5:28180789..28182716,2	K562	blood:
5	chr5:28212902..28214743-chr5:28218747..28220694,2	K562	blood:
6	chr5:28234903..28236719-chr5:28238534..28240532,2	K562	blood:
7	chr5:28213194..28214718-chr5:28216358..28217963,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH9-10	chr5:28213466-28214666	NONHSAT100812

Variant related genes	Relation type
ENSG00000250079	TF binding region
ENSG00000250079	chromatin interactions

Extended variants
information (count: 1317 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1317 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11745152	chr5:28142099-28142100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114553361	chr5:28142128-28142129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557969081	chr5:28142129-28142130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142196202	chr5:28142160-28142161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372949750	chr5:28142178-28142179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529617051	chr5:28142227-28142228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183030789	chr5:28142238-28142239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146726165	chr5:28142247-28142248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530891426	chr5:28142248-28142249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140325613	chr5:28142259-28142260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553467221	chr5:28142320-28142321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187717227	chr5:28142338-28142339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12521543	chr5:28142364-28142365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs532467580	chr5:28142456-28142457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192631430	chr5:28142592-28142593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557389843	chr5:28142641-28142642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575622062	chr5:28142674-28142675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575932467	chr5:28142706-28142707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546158770	chr5:28142708-28142709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182803039	chr5:28142762-28142763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528645205	chr5:28142768-28142769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10472603	chr5:28142772-28142773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs375172207	chr5:28142779-28142780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs70942493	chr5:28142796-28142797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11362268	chr5:28142803-28142804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145437349	chr5:28142809-28142810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528954496	chr5:28142824-28142825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112677562	chr5:28142832-28142833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565914685	chr5:28142847-28142848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568747181	chr5:28142849-28142850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534696219	chr5:28142855-28142856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533283521	chr5:28142877-28142878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551355692	chr5:28142936-28142937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548312439	chr5:28142945-28142946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187269574	chr5:28142969-28142970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533932452	chr5:28143029-28143030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62351549	chr5:28143040-28143041	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs568616055	chr5:28143045-28143046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6894814	chr5:28143057-28143058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs557359777	chr5:28143102-28143103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575523261	chr5:28143179-28143180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577100855	chr5:28143182-28143183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540142604	chr5:28143193-28143194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs60987087	chr5:28143255-28143256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs138120364	chr5:28143353-28143354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115524281	chr5:28143360-28143361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575008065	chr5:28143364-28143365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573439519	chr5:28143371-28143372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs118163261	chr5:28143395-28143396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562523045	chr5:28143424-28143425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28138000-28143800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:28143600-28144000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:28143600-28144200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:28143800-28144000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr5:28143800-28144000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:28143800-28144200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:28143800-28144400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:28143800-28144400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:28153000-28153600	Enhancers	HUVEC	blood vessel
10	chr5:28153600-28154400	Active TSS	HUVEC	blood vessel
11	chr5:28153600-28154800	Active TSS	A549	lung
12	chr5:28154400-28154800	Flanking Active TSS	HUVEC	blood vessel
13	chr5:28154800-28157600	Active TSS	HUVEC	blood vessel
14	chr5:28157600-28158600	Enhancers	HUVEC	blood vessel
15	chr5:28158200-28158800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:28158200-28160000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr5:28160000-28164800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:28164400-28166200	Enhancers	HUVEC	blood vessel
19	chr5:28164600-28165400	Enhancers	Brain Hippocampus Middle	brain
20	chr5:28164800-28165200	Enhancers	Adipose Nuclei	Adipose
21	chr5:28164800-28165200	Enhancers	Brain Cingulate Gyrus	brain
22	chr5:28164800-28165200	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr5:28164800-28166000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:28164800-28166000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr5:28164800-28166000	Enhancers	Brain Substantia Nigra	brain
26	chr5:28164800-28166200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr5:28165200-28165600	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr5:28165200-28165600	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr5:28165200-28166000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr5:28165400-28165800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:28165400-28165800	Active TSS	Brain Cingulate Gyrus	brain
32	chr5:28165400-28165800	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr5:28165400-28166200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:28165400-28166200	Enhancers	Ovary	ovary
35	chr5:28165600-28165800	Enhancers	Adipose Nuclei	Adipose
36	chr5:28165600-28166200	Enhancers	Placenta Amnion	Placenta Amnion
37	chr5:28165800-28166000	Enhancers	Brain Anterior Caudate	brain
38	chr5:28165800-28166800	Enhancers	Brain Hippocampus Middle	brain
39	chr5:28166000-28166400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:28166200-28166600	Weak transcription	HUVEC	blood vessel
41	chr5:28166400-28167400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr5:28166800-28167000	Enhancers	HUVEC	blood vessel
43	chr5:28166800-28168800	Weak transcription	Brain Hippocampus Middle	brain
44	chr5:28168800-28169000	Enhancers	Brain Hippocampus Middle	brain
45	chr5:28177600-28177800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr5:28189600-28190200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:28189600-28190400	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr5:28189600-28190400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr5:28189600-28190600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr5:28192600-28192800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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