Variant report

Variant	rs146519289
Chromosome Location	chr3:118657497-118657498
allele	-/T
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	chr3:118656861-118657834	K562	blood:	n/a	n/a
2	STAT5A	chr3:118657258-118657650	K562	blood:	n/a	chr3:118657484-118657493
3	TEAD4	chr3:118657267-118657719	K562	blood:	n/a	n/a
4	MAFK	chr3:118657310-118657911	K562	blood:	n/a	chr3:118657548-118657562 chr3:118657549-118657560
5	CEBPB	chr3:118657204-118657855	K562	blood:	n/a	n/a
6	STAT3	chr3:118657381-118657807	MCF10A-Er-Src	breast:	n/a	chr3:118657484-118657493
7	MYC	chr3:118657295-118657770	K562	blood:	n/a	chr3:118657483-118657492
8	FOS	chr3:118657250-118657911	MCF10A-Er-Src	breast:	n/a	chr3:118657480-118657491 chr3:118657482-118657493 chr3:118657484-118657493
9	ATF1	chr3:118656994-118657817	K562	blood:	n/a	n/a
10	KAP1	chr3:118657219-118657793	U2OS	brain:	n/a	n/a
11	CEBPB	chr3:118657320-118657849	Hela-S3	cervix:	n/a	n/a
12	JUND	chr3:118657322-118657900	Hela-S3	cervix:	n/a	chr3:118657480-118657491 chr3:118657484-118657493
13	CCNT2	chr3:118657067-118657701	K562	blood:	n/a	n/a
14	FOS	chr3:118657300-118657907	MCF10A-Er-Src	breast:	n/a	chr3:118657480-118657491 chr3:118657482-118657493 chr3:118657484-118657493
15	MYC	chr3:118657406-118657798	MCF10A-Er-Src	breast:	n/a	chr3:118657483-118657492
16	FOS	chr3:118657065-118657903	MCF10A-Er-Src	breast:	n/a	chr3:118657480-118657491 chr3:118657482-118657493 chr3:118657484-118657493
17	TAL1	chr3:118657353-118657734	K562	blood:	n/a	n/a
18	STAT3	chr3:118657395-118657604	MCF10A-Er-Src	breast:	n/a	chr3:118657484-118657493
19	CEBPB	chr3:118657383-118657824	A549	lung:	n/a	n/a
20	JUN	chr3:118657158-118657825	K562	blood:	n/a	chr3:118657480-118657491 chr3:118657484-118657493
21	CEBPB	chr3:118657322-118657749	K562	blood:	n/a	n/a
22	RCOR1	chr3:118657316-118657704	K562	blood:	n/a	n/a
23	ZNF384	chr3:118657278-118657774	K562	blood:	n/a	n/a
24	FOSL2	chr3:118657333-118657843	A549	lung:	n/a	chr3:118657480-118657491 chr3:118657484-118657493
25	CBX3	chr3:118657347-118657712	K562	blood:	n/a	n/a
26	FOS	chr3:118657230-118657907	MCF10A-Er-Src	breast:	n/a	chr3:118657480-118657491 chr3:118657482-118657493 chr3:118657484-118657493
27	RCOR1	chr3:118657092-118657882	K562	blood:	n/a	n/a
28	POLR2A	chr3:118657279-118657631	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F4	chr3:118657466-118657772	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr3:118657273-118657973	MCF10A-Er-Src	breast:	n/a	chr3:118657484-118657493
31	MAFF	chr3:118657279-118657914	K562	blood:	n/a	chr3:118657717-118657735
32	ATF3	chr3:118657196-118657890	K562	blood:	n/a	chr3:118657446-118657456
33	JUN	chr3:118657323-118657744	K562	blood:	n/a	chr3:118657480-118657491 chr3:118657484-118657493
34	FOXA2	chr3:118657328-118657780	A549	lung:	n/a	n/a
35	TBL1XR1	chr3:118657351-118657967	K562	blood:	n/a	n/a
36	CUX1	chr3:118657081-118657696	K562	blood:	n/a	chr3:118657344-118657358
37	FOS	chr3:118657167-118657785	HUVEC	blood vessel:	n/a	chr3:118657480-118657491 chr3:118657482-118657493 chr3:118657484-118657493
38	CEBPB	chr3:118657213-118658003	A549	lung:	n/a	n/a
39	MAZ	chr3:118657362-118657881	K562	blood:	n/a	chr3:118657483-118657492
40	FOSL2	chr3:118657160-118657968	A549	lung:	n/a	chr3:118657480-118657491 chr3:118657484-118657493
41	JUN	chr3:118657225-118658117	K562	blood:	n/a	chr3:118657480-118657491 chr3:118657484-118657493
42	JUND	chr3:118656960-118657922	K562	blood:	n/a	chr3:118657480-118657491 chr3:118657484-118657493
43	SP1	chr3:118657316-118657859	A549	lung:	n/a	n/a
44	ZMIZ1	chr3:118657289-118657808	K562	blood:	n/a	n/a
45	TEAD4	chr3:118657253-118657846	K562	blood:	n/a	n/a
46	TCF7L2	chr3:118657137-118657792	Hela-S3	cervix:	n/a	chr3:118657484-118657493
47	STAT3	chr3:118657304-118657807	MCF10A-Er-Src	breast:	n/a	chr3:118657484-118657493
48	HCFC1	chr3:118657339-118657713	K562	blood:	n/a	n/a
49	EP300	chr3:118656831-118657876	K562	blood:	n/a	chr3:118657070-118657079 chr3:118657066-118657080
50	MYC	chr3:118657382-118657772	MCF10A-Er-Src	breast:	n/a	chr3:118657483-118657492

No.	Distal block	Cell Line	Cell type
1	chr3:118650890..118655376-chr3:118655958..118658547,6	K562	blood:
2	chr3:118651043..118653014-chr3:118655958..118658566,3	K562	blood:
3	chr3:118656387..118657894-chr3:118659835..118662017,2	K562	blood:

Variant related genes	Relation type
IGSF11-AS1	TF binding region
ENSG00000239877	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv1010475	chr3:118657382-118789714	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118620200-118663200	Weak transcription	Pancreas	Pancrea
2	chr3:118645200-118661600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:118645800-118661600	Weak transcription	Left Ventricle	heart
4	chr3:118647600-118661000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:118651800-118661200	Weak transcription	Right Atrium	heart
6	chr3:118653000-118660600	Weak transcription	Brain Angular Gyrus	brain
7	chr3:118653800-118661200	Weak transcription	Psoas Muscle	Psoas
8	chr3:118655400-118657800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr3:118655800-118661000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:118656000-118660800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:118656000-118661200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr3:118656800-118657800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:118657000-118657600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:118657000-118657800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr3:118657000-118657800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr3:118657000-118657800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:118657000-118657800	Enhancers	Hela-S3	cervix
18	chr3:118657200-118657600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr3:118657200-118657600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr3:118657200-118657600	Enhancers	HUVEC	blood vessel
21	chr3:118657200-118657600	Enhancers	NHEK	skin
22	chr3:118657200-118657800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr3:118657200-118657800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:118657200-118657800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:118657200-118657800	Enhancers	HMEC	breast
26	chr3:118657200-118657800	Flanking Active TSS	K562	blood
27	chr3:118657200-118658000	Enhancers	Brain Anterior Caudate	brain
28	chr3:118657200-118658000	Flanking Active TSS	A549	lung
29	chr3:118657400-118657600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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