Variant report

Variant	nsv880548
Chromosome Location	chr5:29566495-29611889
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	BRCA1	chr5:29587962-29588174	Hela-S3	cervix:	n/a	n/a
2	CCNT2	chr5:29568109-29568475	K562	blood:	n/a	n/a
3	CEBPB	chr5:29568089-29568567	K562	blood:	n/a	n/a
4	CEBPB	chr5:29587991-29588728	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr5:29597920-29598079	HepG2	liver:	n/a	n/a
6	CEBPB	chr5:29567799-29568536	K562	blood:	n/a	n/a
7	CEBPD	chr5:29568101-29568557	K562	blood:	n/a	n/a
8	CEBPD	chr5:29568086-29568544	K562	blood:	n/a	n/a
9	CTCF	chr5:29600742-29600770	ProgFib	skin:	n/a	n/a
10	CTCF	chr5:29597260-29597410	HCPEpiC	choroid plexus:	n/a	n/a
11	CTCF	chr5:29604300-29604341	Kidney_OC	kidney:	n/a	n/a
12	CUX1	chr5:29567485-29567571	K562	blood:	n/a	n/a
13	EP300	chr5:29587974-29588741	Hela-S3	cervix:	n/a	n/a
14	EP300	chr5:29590439-29590517	K562	blood:	n/a	n/a
15	EP300	chr5:29606680-29606775	K562	blood:	n/a	n/a
16	EP300	chr5:29595145-29595190	K562	blood:	n/a	n/a
17	EP300	chr5:29568019-29568510	K562	blood:	n/a	n/a
18	FOS	chr5:29587998-29588768	Hela-S3	cervix:	n/a	n/a
19	FOS	chr5:29588032-29588235	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr5:29588026-29588636	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr5:29566955-29567155	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr5:29588092-29588292	MCF10A-Er-Src	breast:	n/a	n/a
23	FOSL2	chr5:29587980-29588275	MCF-7	breast:	n/a	n/a
24	GABPA	chr5:29568136-29568439	K562	blood:	n/a	n/a
25	GATA1	chr5:29567740-29568719	K562	blood:	n/a	chr5:29568304-29568320 chr5:29568215-29568226 chr5:29568308-29568317 chr5:29568307-29568317 chr5:29568306-29568318
26	GATA1	chr5:29567856-29568674	PBDE	blood:	n/a	chr5:29568304-29568320 chr5:29568215-29568226 chr5:29568308-29568317 chr5:29568307-29568317 chr5:29568306-29568318
27	GATA2	chr5:29568062-29568517	K562	blood:	n/a	chr5:29568304-29568320 chr5:29568215-29568226 chr5:29568308-29568317 chr5:29568307-29568317 chr5:29568306-29568318
28	GATA3	chr5:29587914-29588292	MCF-7	breast:	n/a	n/a
29	HDAC2	chr5:29568186-29568398	K562	blood:	n/a	n/a
30	HMGN3	chr5:29568149-29568472	K562	blood:	n/a	n/a
31	IRF1	chr5:29568301-29568381	K562	blood:	n/a	n/a
32	IRF1	chr5:29568216-29568498	K562	blood:	n/a	n/a
33	JUN	chr5:29588921-29589044	H1-hESC	embryonic stem cell:	n/a	n/a
34	JUN	chr5:29587909-29588757	Hela-S3	cervix:	n/a	n/a
35	JUN	chr5:29567665-29567678	HepG2	liver:	n/a	n/a
36	JUN	chr5:29567055-29567227	K562	blood:	n/a	n/a
37	JUN	chr5:29570495-29570505	HepG2	liver:	n/a	n/a
38	JUND	chr5:29587921-29588732	Hela-S3	cervix:	n/a	n/a
39	MAFK	chr5:29586076-29586276	HepG2	liver:	n/a	n/a
40	MAFK	chr5:29607681-29607767	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAX	chr5:29573145-29573234	NB4	blood:	n/a	n/a
42	MAZ	chr5:29599387-29599839	HepG2	liver:	n/a	n/a
43	MAZ	chr5:29609132-29609176	HepG2	liver:	n/a	n/a
44	MAZ	chr5:29587206-29587374	Hela-S3	cervix:	n/a	n/a
45	MYC	chr5:29593746-29593809	H1-hESC	embryonic stem cell:	n/a	n/a
46	NFYB	chr5:29568300-29568367	Hela-S3	cervix:	n/a	n/a
47	NR2F2	chr5:29568114-29568485	K562	blood:	n/a	n/a
48	NR2F2	chr5:29568137-29568512	K562	blood:	n/a	n/a
49	PML	chr5:29568056-29568549	K562	blood:	n/a	n/a
50	PML	chr5:29568057-29568481	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:27487589..27488219-chr5:29570534..29571280,2	MCF-7	breast:
2	chr16:89785981..89788099-chr5:29571782..29574694,2	MCF-7	breast:

Variant related genes	Relation type
UBL5P1	TF binding region
ENSG00000077235	chromatin interactions
ENSG00000158805	chromatin interactions
ENSG00000075399	chromatin interactions

Extended variants
information (count: 530 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:530 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535641692	chr5:29566806-29566807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557220450	chr5:29566810-29566811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546709882	chr5:29566813-29566814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184167398	chr5:29566851-29566852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539124693	chr5:29566917-29566918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73087319	chr5:29566927-29566928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572701425	chr5:29566928-29566929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540230244	chr5:29566948-29566949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114767246	chr5:29566975-29566976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574825138	chr5:29566976-29566977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528886757	chr5:29566983-29566984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548924340	chr5:29567051-29567052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143418296	chr5:29567052-29567053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188715972	chr5:29567118-29567119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545931463	chr5:29567147-29567148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191940464	chr5:29567158-29567159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112829432	chr5:29567160-29567161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528465454	chr5:29567195-29567196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547063148	chr5:29567244-29567245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538121780	chr5:29567295-29567296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557956449	chr5:29567319-29567320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571492192	chr5:29567347-29567348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529239350	chr5:29567401-29567402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550906939	chr5:29567404-29567405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183237286	chr5:29567496-29567497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370268746	chr5:29567501-29567502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573719291	chr5:29567503-29567504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534066466	chr5:29567560-29567561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551147239	chr5:29567569-29567570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566611368	chr5:29567603-29567604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187043789	chr5:29567627-29567628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554980379	chr5:29567665-29567666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573319711	chr5:29567667-29567668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545548347	chr5:29567684-29567685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557236084	chr5:29567708-29567709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575709036	chr5:29567753-29567754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79479006	chr5:29567754-29567755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10069250	chr5:29567773-29567774	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs191845143	chr5:29567788-29567789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111388818	chr5:29567811-29567812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529228199	chr5:29567814-29567815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562027549	chr5:29567830-29567831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139339303	chr5:29567855-29567856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550845461	chr5:29567878-29567879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73087321	chr5:29567884-29567885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183973112	chr5:29567886-29567887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551582636	chr5:29567893-29567894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566431629	chr5:29567979-29567980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111713005	chr5:29568009-29568010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533610860	chr5:29568045-29568046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29566800-29567200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr5:29567000-29567200	Enhancers	Primary hematopoietic stem cells	blood
3	chr5:29567000-29568200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:29567200-29567600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:29567400-29568400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:29567600-29569800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:29568200-29568800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:29568400-29568800	Enhancers	Primary hematopoietic stem cells	blood
9	chr5:29568800-29569200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:29569200-29569400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:29569400-29570200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:29569800-29570800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:29570200-29571200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:29570800-29572400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:29571200-29571400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:29571400-29571600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:29571600-29571800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:29571800-29572000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:29572000-29572200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:29587200-29589400	Enhancers	Hela-S3	cervix
21	chr5:29602800-29603600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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