Variant report

Variant	rs540032921
Chromosome Location	chr3:118657712-118657713
allele	C/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	TEAD4	chr3:118657267-118657719	K562	blood:	n/a	n/a
3	MAFK	chr3:118657310-118657911	K562	blood:	n/a	chr3:118657548-118657562 chr3:118657549-118657560
4	CEBPB	chr3:118657204-118657855	K562	blood:	n/a	n/a
5	STAT3	chr3:118657381-118657807	MCF10A-Er-Src	breast:	n/a	chr3:118657484-118657493
6	MYC	chr3:118657295-118657770	K562	blood:	n/a	chr3:118657483-118657492
7	FOS	chr3:118657250-118657911	MCF10A-Er-Src	breast:	n/a	chr3:118657480-118657491 chr3:118657482-118657493 chr3:118657484-118657493
8	ATF1	chr3:118656994-118657817	K562	blood:	n/a	n/a
9	KAP1	chr3:118657219-118657793	U2OS	brain:	n/a	n/a
10	CEBPB	chr3:118657320-118657849	Hela-S3	cervix:	n/a	n/a
11	JUND	chr3:118657322-118657900	Hela-S3	cervix:	n/a	chr3:118657480-118657491 chr3:118657484-118657493
12	FOS	chr3:118657300-118657907	MCF10A-Er-Src	breast:	n/a	chr3:118657480-118657491 chr3:118657482-118657493 chr3:118657484-118657493
13	MYC	chr3:118657406-118657798	MCF10A-Er-Src	breast:	n/a	chr3:118657483-118657492
14	RFX5	chr3:118657581-118657770	K562	blood:	n/a	n/a
15	MAFK	chr3:118657525-118657875	Hela-S3	cervix:	n/a	chr3:118657548-118657562 chr3:118657549-118657560
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	MAFF	chr3:118657546-118657903	HepG2	liver:	n/a	chr3:118657717-118657735
19	MAFK	chr3:118657549-118657897	HepG2	liver:	n/a	chr3:118657549-118657560
20	CEBPB	chr3:118657383-118657824	A549	lung:	n/a	n/a
21	JUN	chr3:118657158-118657825	K562	blood:	n/a	chr3:118657480-118657491 chr3:118657484-118657493
22	CEBPB	chr3:118657322-118657749	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	E2F4	chr3:118657466-118657772	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr3:118657273-118657973	MCF10A-Er-Src	breast:	n/a	chr3:118657484-118657493
30	MAFF	chr3:118657279-118657914	K562	blood:	n/a	chr3:118657717-118657735
31	ATF3	chr3:118657196-118657890	K562	blood:	n/a	chr3:118657446-118657456
32	JUN	chr3:118657323-118657744	K562	blood:	n/a	chr3:118657480-118657491 chr3:118657484-118657493
33	FOXA2	chr3:118657328-118657780	A549	lung:	n/a	n/a
34	TBL1XR1	chr3:118657351-118657967	K562	blood:	n/a	n/a
35	FOS	chr3:118657167-118657785	HUVEC	blood vessel:	n/a	chr3:118657480-118657491 chr3:118657482-118657493 chr3:118657484-118657493
36	ZNF143	chr3:118657694-118657891	K562	blood:	n/a	n/a
37	CEBPB	chr3:118657213-118658003	A549	lung:	n/a	n/a
38	BACH1	chr3:118657669-118657869	K562	blood:	n/a	n/a
39	MAFK	chr3:118657540-118657908	IMR90	lung:	n/a	chr3:118657548-118657562 chr3:118657549-118657560
40	MAFK	chr3:118657587-118657787	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAZ	chr3:118657362-118657881	K562	blood:	n/a	chr3:118657483-118657492
42	FOSL2	chr3:118657160-118657968	A549	lung:	n/a	chr3:118657480-118657491 chr3:118657484-118657493
43	JUN	chr3:118657225-118658117	K562	blood:	n/a	chr3:118657480-118657491 chr3:118657484-118657493
44	JUND	chr3:118656960-118657922	K562	blood:	n/a	chr3:118657480-118657491 chr3:118657484-118657493
45	SP1	chr3:118657316-118657859	A549	lung:	n/a	n/a
46	MAFK	chr3:118657524-118657900	HepG2	liver:	n/a	chr3:118657548-118657562 chr3:118657549-118657560
47	ZMIZ1	chr3:118657289-118657808	K562	blood:	n/a	n/a
48	TEAD4	chr3:118657253-118657846	K562	blood:	n/a	n/a
49	TCF7L2	chr3:118657137-118657792	Hela-S3	cervix:	n/a	chr3:118657484-118657493
50	STAT3	chr3:118657304-118657807	MCF10A-Er-Src	breast:	n/a	chr3:118657484-118657493

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:24 , 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	chr3:118657000-118657800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr3:118657000-118657800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr3:118657000-118657800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:118657000-118657800	Enhancers	Hela-S3	cervix
17	chr3:118657200-118657800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr3:118657200-118657800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr3:118657200-118657800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:118657200-118657800	Enhancers	HMEC	breast
21	chr3:118657200-118657800	Flanking Active TSS	K562	blood
22	chr3:118657200-118658000	Enhancers	Brain Anterior Caudate	brain
23	chr3:118657200-118658000	Flanking Active TSS	A549	lung
24	chr3:118657600-118661200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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