Variant report

Variant	nsv4770
Chromosome Location	chr5:28166057-28228437
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	chr5:28217233-28217496	GM12878	blood:	n/a	n/a
5	BCL11A	chr5:28217210-28217480	GM12878	blood:	n/a	n/a
6	BHLHE40	chr5:28217243-28217471	GM12878	blood:	n/a	n/a
7	BRCA1	chr5:28190095-28190272	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr5:28215303-28215727	MCF-7	breast:	n/a	chr5:28215570-28215581
9	CEBPB	chr5:28202427-28202699	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr5:28218715-28219038	HepG2	liver:	n/a	chr5:28218888-28218899
11	CEBPB	chr5:28218772-28219073	IMR90	lung:	n/a	chr5:28218888-28218899
12	CEBPB	chr5:28218749-28219007	A549	lung:	n/a	chr5:28218888-28218899
13	CEBPB	chr5:28209615-28209859	K562	blood:	n/a	chr5:28209729-28209740
14	CEBPB	chr5:28209551-28209899	A549	lung:	n/a	chr5:28209729-28209740
15	CEBPB	chr5:28176926-28177004	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr5:28190131-28190367	A549	lung:	n/a	chr5:28190293-28190304 chr5:28190293-28190304
17	CEBPB	chr5:28222230-28222533	HepG2	liver:	n/a	chr5:28222361-28222372
18	CEBPB	chr5:28215280-28215719	MCF-7	breast:	n/a	chr5:28215570-28215581
19	CEBPB	chr5:28194833-28195179	HepG2	liver:	n/a	chr5:28194982-28194993
20	CEBPB	chr5:28209689-28209881	H1-hESC	embryonic stem cell:	n/a	chr5:28209729-28209740
21	CEBPB	chr5:28209552-28209914	HepG2	liver:	n/a	chr5:28209729-28209740
22	CEBPB	chr5:28218733-28219051	Hela-S3	cervix:	n/a	chr5:28218888-28218899
23	CEBPB	chr5:28218748-28219015	K562	blood:	n/a	chr5:28218888-28218899
24	CEBPB	chr5:28209564-28209904	IMR90	lung:	n/a	chr5:28209729-28209740
25	CEBPB	chr5:28194915-28195172	A549	lung:	n/a	chr5:28194982-28194993
26	CTCF	chr5:28197720-28197870	A549	lung:	n/a	n/a
27	CTCF	chr5:28177816-28177849	MCF-7	breast:	n/a	n/a
28	CTCF	chr5:28177760-28177910	HEEpiC	esophagus:	n/a	n/a
29	CTCF	chr5:28188671-28188702	K562	blood:	n/a	n/a
30	CTCF	chr5:28188663-28188693	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr5:28188606-28188769	MCF-7	breast:	n/a	n/a
32	CTCF	chr5:28177794-28177809	MCF-7	breast:	n/a	n/a
33	E2F4	chr5:28204950-28205144	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr5:28202701-28202704	MCF10A-Er-Src	breast:	n/a	n/a
35	EBF1	chr5:28203475-28203628	GM12878	blood:	n/a	n/a
36	EBF1	chr5:28217211-28217545	GM12878	blood:	n/a	n/a
37	EBF1	chr5:28217099-28217491	GM12878	blood:	n/a	n/a
38	EBF1	chr5:28217174-28217479	GM12878	blood:	n/a	n/a
39	EP300	chr5:28189998-28190565	T-47D	breast:	n/a	n/a
40	EP300	chr5:28217169-28217482	GM12878	blood:	n/a	n/a
41	EP300	chr5:28217111-28217551	GM12878	blood:	n/a	n/a
42	EP300	chr5:28188920-28189007	GM12878	blood:	n/a	n/a
43	EP300	chr5:28215226-28215631	MCF-7	breast:	n/a	n/a
44	FOS	chr5:28226568-28226835	MCF10A-Er-Src	breast:	n/a	chr5:28226709-28226720
45	FOS	chr5:28226633-28226842	HUVEC	blood vessel:	n/a	chr5:28226709-28226720
46	FOS	chr5:28226542-28226861	MCF10A-Er-Src	breast:	n/a	chr5:28226709-28226720
47	FOS	chr5:28226639-28226870	MCF10A-Er-Src	breast:	n/a	chr5:28226709-28226720
48	FOSL2	chr5:28226571-28226953	MCF-7	breast:	n/a	n/a
49	FOSL2	chr5:28226606-28226795	HepG2	liver:	n/a	n/a
50	FOXA1	chr5:28215212-28215578	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:28173448..28176167-chr5:28180789..28182716,2	K562	blood:
2	chr5:28173448..28176167-chr5:28180789..28182716,2	K562	blood:
3	chr5:28212902..28214743-chr5:28218747..28220694,2	K562	blood:
4	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: 455 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:455 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571841553	chr5:28166078-28166079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538693104	chr5:28166094-28166095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554115023	chr5:28166120-28166121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148710625	chr5:28166134-28166135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142465926	chr5:28166138-28166139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555214125	chr5:28166161-28166162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551338725	chr5:28166178-28166179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200815095	chr5:28166188-28166189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542182800	chr5:28166226-28166227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543984150	chr5:28166238-28166239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564863287	chr5:28166241-28166242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561972688	chr5:28166247-28166248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148706461	chr5:28166280-28166281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150914247	chr5:28166297-28166298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540689640	chr5:28166355-28166356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558887540	chr5:28166378-28166379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529948131	chr5:28166383-28166384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548033951	chr5:28166390-28166391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs57077934	chr5:28166392-28166393	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs111805947	chr5:28166396-28166397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552334306	chr5:28166427-28166428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535765049	chr5:28166452-28166453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75404569	chr5:28166509-28166510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575522324	chr5:28166526-28166527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs68055094	chr5:28166527-28166528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539095641	chr5:28166532-28166533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397743137	chr5:28166538-28166539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74474137	chr5:28166539-28166540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553897371	chr5:28166572-28166573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187801081	chr5:28166632-28166633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34437835	chr5:28166664-28166665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144452541	chr5:28166673-28166674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555351183	chr5:28166675-28166676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146603935	chr5:28166706-28166707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563581208	chr5:28166707-28166708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532309037	chr5:28166713-28166714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559077677	chr5:28166719-28166720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35676372	chr5:28166731-28166732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576877735	chr5:28166734-28166735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541080373	chr5:28166739-28166740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558926197	chr5:28166834-28166835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536900193	chr5:28166839-28166840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191648081	chr5:28166873-28166874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555364910	chr5:28166881-28166882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552103910	chr5:28166889-28166890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565741903	chr5:28166909-28166910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563279682	chr5:28166917-28166918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565505397	chr5:28166971-28166972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530814301	chr5:28166975-28166976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140912424	chr5:28167018-28167019	Enhancers 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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28164400-28166200	Enhancers	HUVEC	blood vessel
2	chr5:28164800-28166200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr5:28165400-28166200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:28165400-28166200	Enhancers	Ovary	ovary
5	chr5:28165600-28166200	Enhancers	Placenta Amnion	Placenta Amnion
6	chr5:28165800-28166800	Enhancers	Brain Hippocampus Middle	brain
7	chr5:28166000-28166400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:28166200-28166600	Weak transcription	HUVEC	blood vessel
9	chr5:28166400-28167400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr5:28166800-28167000	Enhancers	HUVEC	blood vessel
11	chr5:28166800-28168800	Weak transcription	Brain Hippocampus Middle	brain
12	chr5:28168800-28169000	Enhancers	Brain Hippocampus Middle	brain
13	chr5:28177600-28177800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:28189600-28190200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:28189600-28190400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:28189600-28190400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr5:28189600-28190600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr5:28192600-28192800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:28192600-28192800	Enhancers	Brain Anterior Caudate	brain
20	chr5:28192600-28193400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:28192800-28193200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:28192800-28193200	Active TSS	Brain Anterior Caudate	brain
23	chr5:28193000-28193400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr5:28193200-28193400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:28202800-28203000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:28213800-28216800	Enhancers	Dnd41	blood
27	chr5:28215600-28216000	Enhancers	Fetal Kidney	kidney
28	chr5:28216800-28217600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr5:28216800-28217600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:28216800-28218000	Flanking Active TSS	Dnd41	blood
31	chr5:28216800-28218200	Enhancers	GM12878-XiMat	blood
32	chr5:28217000-28217600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:28218000-28218400	Enhancers	Dnd41	blood
34	chr5:28228400-28228800	Enhancers	Dnd41	blood

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