Variant report

Variant	nsv597758
Chromosome Location	chr5:29546249-29620270
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	CEBPB	chr5:29552338-29552410	HepG2	liver:	n/a	chr5:29552363-29552374
8	CEBPB	chr5:29614349-29614730	Hela-S3	cervix:	n/a	n/a
9	CEBPD	chr5:29568101-29568557	K562	blood:	n/a	n/a
10	CEBPD	chr5:29568086-29568544	K562	blood:	n/a	n/a
11	CTCF	chr5:29600742-29600770	ProgFib	skin:	n/a	n/a
12	CTCF	chr5:29604300-29604341	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr5:29597260-29597410	HCPEpiC	choroid plexus:	n/a	n/a
14	CUX1	chr5:29567485-29567571	K562	blood:	n/a	n/a
15	E2F4	chr5:29616472-29616776	MCF10A-Er-Src	breast:	n/a	n/a
16	ELK1	chr5:29556709-29556747	Hela-S3	cervix:	n/a	n/a
17	EP300	chr5:29617734-29617895	GM12878	blood:	n/a	n/a
18	EP300	chr5:29590439-29590517	K562	blood:	n/a	n/a
19	EP300	chr5:29614431-29614795	Hela-S3	cervix:	n/a	n/a
20	EP300	chr5:29587974-29588741	Hela-S3	cervix:	n/a	n/a
21	EP300	chr5:29614493-29614560	GM12878	blood:	n/a	n/a
22	EP300	chr5:29606680-29606775	K562	blood:	n/a	n/a
23	EP300	chr5:29568019-29568510	K562	blood:	n/a	n/a
24	EP300	chr5:29550467-29551259	SK-N-SH	brain:	n/a	n/a
25	EP300	chr5:29595145-29595190	K562	blood:	n/a	n/a
26	FOS	chr5:29588026-29588636	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr5:29614335-29614781	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr5:29614369-29614731	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr5:29566955-29567155	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr5:29587998-29588768	Hela-S3	cervix:	n/a	n/a
31	FOS	chr5:29614318-29614779	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr5:29588092-29588292	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr5:29614333-29614724	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr5:29588032-29588235	MCF10A-Er-Src	breast:	n/a	n/a
35	FOSL2	chr5:29587980-29588275	MCF-7	breast:	n/a	n/a
36	GABPA	chr5:29568136-29568439	K562	blood:	n/a	n/a
37	GATA1	chr5:29567856-29568674	PBDE	blood:	n/a	chr5:29568304-29568320 chr5:29568215-29568226 chr5:29568308-29568317 chr5:29568307-29568317 chr5:29568306-29568318
38	GATA1	chr5:29567740-29568719	K562	blood:	n/a	chr5:29568304-29568320 chr5:29568215-29568226 chr5:29568308-29568317 chr5:29568307-29568317 chr5:29568306-29568318
39	GATA2	chr5:29550650-29551131	SH-SY5Y	brain:	n/a	n/a
40	GATA2	chr5:29568062-29568517	K562	blood:	n/a	chr5:29568304-29568320 chr5:29568215-29568226 chr5:29568308-29568317 chr5:29568307-29568317 chr5:29568306-29568318
41	GATA3	chr5:29587914-29588292	MCF-7	breast:	n/a	n/a
42	GATA3	chr5:29550557-29551115	SH-SY5Y	brain:	n/a	n/a
43	GATA3	chr5:29550662-29550979	SK-N-SH	brain:	n/a	n/a
44	HDAC2	chr5:29568186-29568398	K562	blood:	n/a	n/a
45	HMGN3	chr5:29568149-29568472	K562	blood:	n/a	n/a
46	IRF1	chr5:29568301-29568381	K562	blood:	n/a	n/a
47	IRF1	chr5:29568216-29568498	K562	blood:	n/a	n/a
48	JUN	chr5:29570495-29570505	HepG2	liver:	n/a	n/a
49	JUN	chr5:29567665-29567678	HepG2	liver:	n/a	n/a
50	JUN	chr5:29561698-29562015	HepG2	liver:	n/a	chr5:29561869-29561878 chr5:29561868-29561881

No.	Distal block	Cell Line	Cell type
1	chr5:29620035..29622604-chr5:29624083..29625819,2	K562	blood:
2	chr5:29615746..29618032-chr5:29623108..29625004,2	K562	blood:
3	chr16:27487589..27488219-chr5:29570534..29571280,2	MCF-7	breast:
4	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: 789 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:789 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs597314	chr5:29546249-29546250	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545683577	chr5:29546291-29546292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529526759	chr5:29546384-29546385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377609715	chr5:29546394-29546395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527897746	chr5:29546449-29546450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544530981	chr5:29546457-29546458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563060742	chr5:29546459-29546460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533534231	chr5:29546479-29546480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371325425	chr5:29546502-29546503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560584029	chr5:29546507-29546508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72751451	chr5:29546533-29546534	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs188254892	chr5:29546541-29546542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34921920	chr5:29546584-29546585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567699921	chr5:29546619-29546620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs36121417	chr5:29546625-29546626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576588150	chr5:29546672-29546673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550023601	chr5:29546709-29546710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs329885	chr5:29546718-29546719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546673603	chr5:29546729-29546730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571470506	chr5:29546754-29546755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538785759	chr5:29546762-29546763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377569967	chr5:29546788-29546789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs180776143	chr5:29546847-29546848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6860062	chr5:29546870-29546871	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs532651777	chr5:29546872-29546873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540374515	chr5:29546938-29546939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554120779	chr5:29546995-29546996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537636635	chr5:29547002-29547003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186318405	chr5:29547032-29547033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189213415	chr5:29547061-29547062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138859536	chr5:29547082-29547083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114152925	chr5:29547094-29547095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560560957	chr5:29547095-29547096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181930731	chr5:29547106-29547107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs397698418	chr5:29547111-29547112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552847432	chr5:29547201-29547202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs606024	chr5:29547243-29547244	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs561391440	chr5:29547248-29547249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375260169	chr5:29547308-29547309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186575964	chr5:29547380-29547381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573757607	chr5:29547381-29547382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142792496	chr5:29547389-29547390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555238644	chr5:29547392-29547393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191799711	chr5:29547397-29547398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547562305	chr5:29547401-29547402	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs115671189	chr5:29547408-29547409	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs536062993	chr5:29547459-29547460	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs147284829	chr5:29547472-29547473	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs575741288	chr5:29547480-29547481	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs537004927	chr5:29547482-29547483	Weak transcription Enhancers Flanking Active TSS	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29543400-29547400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:29544400-29547600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:29544600-29548200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:29545200-29546400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:29546400-29548800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:29547400-29548000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:29547600-29548400	Enhancers	Primary hematopoietic stem cells	blood
8	chr5:29548000-29548600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:29548200-29550000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:29549800-29550200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:29566800-29567200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:29567000-29567200	Enhancers	Primary hematopoietic stem cells	blood
13	chr5:29567000-29568200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:29567200-29567600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:29567400-29568400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:29567600-29569800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:29568200-29568800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:29568400-29568800	Enhancers	Primary hematopoietic stem cells	blood
19	chr5:29568800-29569200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:29569200-29569400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:29569400-29570200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:29569800-29570800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:29570200-29571200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:29570800-29572400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:29571200-29571400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:29571400-29571600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:29571600-29571800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:29571800-29572000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:29572000-29572200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:29587200-29589400	Enhancers	Hela-S3	cervix
31	chr5:29602800-29603600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:29613600-29614200	Enhancers	Hela-S3	cervix
33	chr5:29614200-29614600	Weak transcription	Hela-S3	cervix
34	chr5:29614600-29615200	Enhancers	Hela-S3	cervix

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