Variant report

Variant	esv2760771
Chromosome Location	chr3:110263131-110288760
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	chr3:110269356-110270029	K562	blood:	n/a	n/a
2	BATF	chr3:110287191-110287395	GM12878	blood:	n/a	n/a
3	CBX3	chr3:110286966-110287682	HCT-116	colon:	n/a	n/a
4	CBX3	chr3:110286951-110287606	HCT-116	colon:	n/a	n/a
5	CBX3	chr3:110279516-110279782	K562	blood:	n/a	n/a
6	CCNT2	chr3:110269416-110269998	K562	blood:	n/a	n/a
7	CEBPB	chr3:110286938-110287766	HCT-116	colon:	n/a	n/a
8	CEBPB	chr3:110287072-110287642	HCT-116	colon:	n/a	n/a
9	CTCF	chr3:110288262-110288360	K562	blood:	n/a	n/a
10	CTCF	chr3:110268738-110268770	GM13976	blood:	n/a	n/a
11	CUX1	chr3:110269296-110269508	K562	blood:	n/a	n/a
12	E2F4	chr3:110286935-110287506	MCF10A-Er-Src	breast:	n/a	n/a
13	EBF1	chr3:110287168-110287466	GM12878	blood:	n/a	n/a
14	EP300	chr3:110287164-110287483	SK-N-SH_RA	brain:	n/a	n/a
15	EP300	chr3:110287020-110287669	SK-N-SH	brain:	n/a	n/a
16	EP300	chr3:110269402-110269708	K562	blood:	n/a	n/a
17	FOS	chr3:110281676-110281696	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr3:110287109-110287642	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr3:110287144-110287585	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr3:110287114-110287651	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr3:110287242-110287607	HUVEC	blood vessel:	n/a	n/a
22	FOS	chr3:110281585-110281614	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr3:110287196-110287575	MCF10A-Er-Src	breast:	n/a	n/a
24	FOSL1	chr3:110286997-110287622	HCT-116	colon:	n/a	n/a
25	FOSL1	chr3:110286982-110287826	HCT-116	colon:	n/a	n/a
26	FOSL2	chr3:110286993-110287679	A549	lung:	n/a	n/a
27	FOSL2	chr3:110287048-110287697	SK-N-SH	brain:	n/a	n/a
28	FOSL2	chr3:110287137-110287660	SK-N-SH	brain:	n/a	n/a
29	FOSL2	chr3:110287251-110287534	A549	lung:	n/a	n/a
30	FOSL2	chr3:110281371-110281853	A549	lung:	n/a	n/a
31	FOXA1	chr3:110285867-110286212	A549	lung:	n/a	n/a
32	GATA2	chr3:110269424-110269759	SH-SY5Y	brain:	n/a	n/a
33	GATA2	chr3:110269311-110269668	K562	blood:	n/a	n/a
34	GATA3	chr3:110269344-110270001	SH-SY5Y	brain:	n/a	chr3:110269788-110269795
35	GATA3	chr3:110287122-110287645	SK-N-SH	brain:	n/a	n/a
36	GATA3	chr3:110287075-110287708	A549	lung:	n/a	n/a
37	IKZF1	chr3:110287180-110287376	GM12878	blood:	n/a	n/a
38	IRF1	chr3:110268622-110269244	K562	blood:	n/a	chr3:110268629-110268646 chr3:110268629-110268641 chr3:110268840-110268849 chr3:110268623-110268635
39	IRF3	chr3:110264338-110264415	GM12878	blood:	n/a	n/a
40	JUND	chr3:110287000-110287699	HCT-116	colon:	n/a	n/a
41	JUND	chr3:110287032-110287722	SK-N-SH	brain:	n/a	n/a
42	JUND	chr3:110287011-110287717	SK-N-SH	brain:	n/a	n/a
43	JUND	chr3:110287053-110287726	HCT-116	colon:	n/a	n/a
44	KAP1	chr3:110267201-110267637	K562	blood:	n/a	n/a
45	MAFF	chr3:110283513-110283872	HepG2	liver:	n/a	chr3:110283685-110283703 chr3:110283684-110283698
46	MAFF	chr3:110283506-110283866	K562	blood:	n/a	chr3:110283685-110283703 chr3:110283684-110283698
47	MAFK	chr3:110283478-110283876	IMR90	lung:	n/a	chr3:110283686-110283702 chr3:110283686-110283701 chr3:110283681-110283701 chr3:110283691-110283702 chr3:110283683-110283699 chr3:110283691-110283702
48	MAFK	chr3:110287280-110287598	IMR90	lung:	n/a	n/a
49	MAFK	chr3:110283524-110283860	HepG2	liver:	n/a	chr3:110283686-110283702 chr3:110283686-110283701 chr3:110283681-110283701 chr3:110283691-110283702 chr3:110283683-110283699 chr3:110283691-110283702
50	MAFK	chr3:110283517-110283840	K562	blood:	n/a	chr3:110283686-110283702 chr3:110283686-110283701 chr3:110283681-110283701 chr3:110283691-110283702 chr3:110283683-110283699 chr3:110283691-110283702

No.	Distal block	Cell Line	Cell type
1	chr3:110282414..110285256-chr3:110286686..110288676,2	K562	blood:
2	chr3:110232519..110235271-chr3:110279973..110282638,2	K562	blood:
3	chr3:110224350..110227035-chr3:110267483..110270332,2	K562	blood:
4	chr3:110276449..110278320-chr3:110281402..110283554,3	K562	blood:
5	chr3:110279243..110282023-chr3:110283429..110285882,2	K562	blood:
6	chr3:110240671..110243637-chr3:110277371..110279265,2	K562	blood:
7	chr3:110276449..110278320-chr3:110281402..110283554,3	K562	blood:
8	chr3:110279243..110282023-chr3:110283429..110285882,2	K562	blood:
9	chr3:110269319..110271663-chr3:110272777..110274394,2	K562	blood:
10	chr3:110282414..110285256-chr3:110286686..110288676,2	K562	blood:

Variant related genes	Relation type
RNU6ATAC15P	TF binding region
ENSG00000221206	chromatin interactions

Extended variants
information (count: 902 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:902 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573094545	chr3:110263202-110263203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115012421	chr3:110263242-110263243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186953894	chr3:110263327-110263328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1913100	chr3:110263379-110263380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs574925582	chr3:110263430-110263431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs36061746	chr3:110263484-110263485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150454720	chr3:110263513-110263514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552772046	chr3:110263521-110263522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191749142	chr3:110263527-110263528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377729746	chr3:110263570-110263571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577432416	chr3:110263604-110263605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546110930	chr3:110263613-110263614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559648924	chr3:110263744-110263745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115730721	chr3:110263748-110263749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542057643	chr3:110263817-110263818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561624769	chr3:110263861-110263862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530632699	chr3:110263887-110263888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550263676	chr3:110263962-110263963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183530033	chr3:110263998-110263999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533048412	chr3:110264004-110264005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371429616	chr3:110264008-110264009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186668516	chr3:110264040-110264041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193215005	chr3:110264042-110264043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535644011	chr3:110264078-110264079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555606229	chr3:110264109-110264110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568424553	chr3:110264163-110264164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138551246	chr3:110264203-110264204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557045808	chr3:110264218-110264219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9819275	chr3:110264230-110264231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs545826175	chr3:110264233-110264234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553241667	chr3:110264240-110264241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9877235	chr3:110264260-110264261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs541971838	chr3:110264265-110264266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562313742	chr3:110264275-110264276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574769934	chr3:110264406-110264407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530486404	chr3:110264409-110264410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370738328	chr3:110264430-110264431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149274366	chr3:110264438-110264439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564052634	chr3:110264486-110264487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185529692	chr3:110264521-110264522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373179551	chr3:110264528-110264529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546666968	chr3:110264548-110264549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566728257	chr3:110264556-110264557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529216576	chr3:110264571-110264572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190836459	chr3:110264580-110264581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569056123	chr3:110264635-110264636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9877920	chr3:110264685-110264686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs557413382	chr3:110264695-110264696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557415399	chr3:110264782-110264783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559247875	chr3:110264796-110264797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110261600-110269600	Weak transcription	K562	blood
2	chr3:110262000-110268000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr3:110268000-110269000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:110268000-110269000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr3:110268200-110269200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:110268400-110269600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:110268400-110269800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:110268400-110270000	Enhancers	Fetal Heart	heart
9	chr3:110268400-110270000	Enhancers	Fetal Intestine Small	intestine
10	chr3:110268600-110269000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr3:110268600-110269600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:110268800-110269600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:110269000-110270000	Enhancers	Fetal Intestine Large	intestine
14	chr3:110269600-110270000	Enhancers	K562	blood
15	chr3:110269600-110270200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:110270000-110286800	Weak transcription	K562	blood
17	chr3:110280800-110282200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:110281200-110283400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:110281400-110281800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr3:110281400-110281800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:110281400-110281800	Enhancers	Adipose Nuclei	Adipose
22	chr3:110281400-110281800	Enhancers	Osteobl	bone
23	chr3:110281400-110282200	Enhancers	A549	lung
24	chr3:110281600-110281800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:110281600-110281800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr3:110281800-110286600	Weak transcription	Osteobl	bone
27	chr3:110281800-110286800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr3:110281800-110286800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:110282200-110285200	Weak transcription	A549	lung
30	chr3:110282200-110286000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:110283400-110283800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:110283800-110284000	Enhancers	NHDF-Ad	bronchial
33	chr3:110283800-110285800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:110284000-110285800	Weak transcription	NHDF-Ad	bronchial
35	chr3:110285200-110287000	Enhancers	A549	lung
36	chr3:110285800-110286000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:110285800-110286000	Enhancers	NHDF-Ad	bronchial
38	chr3:110285800-110287600	Enhancers	NH-A	brain
39	chr3:110285800-110287800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:110286000-110286400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:110286000-110286800	Weak transcription	NHDF-Ad	bronchial
42	chr3:110286000-110287400	Enhancers	Placenta Amnion	Placenta Amnion
43	chr3:110286000-110287600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr3:110286000-110287800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:110286400-110287400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:110286600-110287400	Enhancers	NHLF	lung
47	chr3:110286600-110287800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:110286600-110287800	Enhancers	Osteobl	bone
49	chr3:110286800-110287000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:110286800-110287400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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