Variant report

Variant	rs58777503
Chromosome Location	chr12:8815431-8815432
allele	A/G
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	ZKSCAN1	chr12:8815232-8815591	Hela-S3	cervix:	n/a	n/a
2	USF2	chr12:8814530-8815676	Hela-S3	cervix:	n/a	n/a
3	RAD21	chr12:8815190-8815639	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr12:8815118-8815704	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr12:8814644-8815731	Hela-S3	cervix:	n/a	n/a
6	RCOR1	chr12:8814517-8815684	Hela-S3	cervix:	n/a	n/a
7	CHD2	chr12:8815226-8815662	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr12:8815000-8815659	Hela-S3	cervix:	n/a	n/a
9	MAZ	chr12:8814717-8815727	Hela-S3	cervix:	n/a	n/a
10	MXI1	chr12:8814435-8815681	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr12:8815025-8815584	ProgFib	skin:	n/a	n/a
12	EP300	chr12:8814354-8815810	Hela-S3	cervix:	n/a	chr12:8814354-8814364
13	TBP	chr12:8815028-8815851	Hela-S3	cervix:	n/a	n/a
14	STAT3	chr12:8815089-8815681	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr12:8815094-8815647	Hela-S3	cervix:	n/a	n/a
16	MAFK	chr12:8815108-8815703	Hela-S3	cervix:	n/a	n/a
17	FOS	chr12:8815390-8815551	MCF10A-Er-Src	breast:	n/a	n/a
18	MAX	chr12:8814418-8815718	Hela-S3	cervix:	n/a	chr12:8814578-8814594
19	GTF2F1	chr12:8814491-8815653	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr12:8813763-8815687	Hela-S3	cervix:	n/a	n/a
21	ELK1	chr12:8815102-8815623	Hela-S3	cervix:	n/a	n/a
22	ZNF143	chr12:8815202-8815654	Hela-S3	cervix:	n/a	n/a
23	RFX5	chr12:8815061-8815669	Hela-S3	cervix:	n/a	n/a
24	TEAD4	chr12:8815147-8815731	ECC-1	luminal epithelium:	n/a	n/a
25	SMC3	chr12:8814979-8815768	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr12:8815126-8815671	Hela-S3	cervix:	n/a	n/a
27	FOS	chr12:8815338-8815577	MCF10A-Er-Src	breast:	n/a	n/a
28	TAF1	chr12:8815132-8815644	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000255829	TF binding region
MFAP5	TF binding region

rs_ID	r²[population]
rs10082851	1.00[EUR][1000 genomes]
rs10082862	1.00[EUR][1000 genomes]
rs10129059	1.00[EUR][1000 genomes]
rs11046855	1.00[EUR][1000 genomes]
rs11046861	1.00[EUR][1000 genomes]
rs11046868	1.00[EUR][1000 genomes]
rs11046869	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046888	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11046896	1.00[EUR][1000 genomes]
rs11046898	1.00[EUR][1000 genomes]
rs11046899	1.00[EUR][1000 genomes]
rs11046943	1.00[EUR][1000 genomes]
rs11047004	1.00[EUR][1000 genomes]
rs11047012	1.00[EUR][1000 genomes]
rs11047040	1.00[EUR][1000 genomes]
rs11047058	1.00[EUR][1000 genomes]
rs11047060	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047080	1.00[EUR][1000 genomes]
rs11047108	1.00[EUR][1000 genomes]
rs11047109	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11502439	1.00[EUR][1000 genomes]
rs12099874	1.00[EUR][1000 genomes]
rs12296102	1.00[EUR][1000 genomes]
rs12296587	1.00[AMR][1000 genomes]
rs12297411	1.00[EUR][1000 genomes]
rs12297919	1.00[EUR][1000 genomes]
rs12298316	1.00[EUR][1000 genomes]
rs12299388	1.00[EUR][1000 genomes]
rs12300916	1.00[EUR][1000 genomes]
rs12304853	0.85[AMR][1000 genomes]
rs12307497	1.00[EUR][1000 genomes]
rs12311048	1.00[EUR][1000 genomes]
rs12311105	1.00[EUR][1000 genomes]
rs12312707	1.00[EUR][1000 genomes]
rs12314072	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12314823	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12315566	1.00[EUR][1000 genomes]
rs12318911	1.00[EUR][1000 genomes]
rs12319105	1.00[EUR][1000 genomes]
rs12319898	1.00[EUR][1000 genomes]
rs12320520	1.00[EUR][1000 genomes]
rs12320578	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321251	1.00[EUR][1000 genomes]
rs12322748	1.00[EUR][1000 genomes]
rs12385824	0.83[AFR][1000 genomes]
rs28651596	1.00[EUR][1000 genomes]
rs28812300	1.00[EUR][1000 genomes]
rs57750938	1.00[EUR][1000 genomes]
rs58191549	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58704538	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59291561	1.00[EUR][1000 genomes]
rs59480189	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59705800	1.00[EUR][1000 genomes]
rs60389926	1.00[EUR][1000 genomes]
rs60467762	1.00[EUR][1000 genomes]
rs60925344	1.00[EUR][1000 genomes]
rs61368791	1.00[EUR][1000 genomes]
rs7134750	1.00[EUR][1000 genomes]
rs7139182	1.00[EUR][1000 genomes]
rs7953439	1.00[EUR][1000 genomes]
rs7953800	1.00[EUR][1000 genomes]
rs7979018	1.00[EUR][1000 genomes]
rs7980514	1.00[EUR][1000 genomes]
rs9783460	1.00[EUR][1000 genomes]
rs9783480	1.00[EUR][1000 genomes]
rs9783524	1.00[EUR][1000 genomes]

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8811800-8829600	Weak transcription	Thymus	Thymus
2	chr12:8813000-8815800	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr12:8813000-8816400	Flanking Active TSS	Hela-S3	cervix
4	chr12:8813400-8815600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:8813400-8815600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:8813400-8815600	Active TSS	HSMM	muscle
7	chr12:8813600-8815600	Active TSS	Fetal Muscle Trunk	muscle
8	chr12:8813600-8815800	Active TSS	NHDF-Ad	bronchial
9	chr12:8814400-8815800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:8814400-8823400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:8814600-8815600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:8814800-8815600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:8814800-8815800	Enhancers	HMEC	breast
14	chr12:8814800-8817200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:8815000-8815600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:8815000-8815600	Active TSS	Right Atrium	heart
17	chr12:8815000-8815600	Flanking Active TSS	NHEK	skin
18	chr12:8815000-8815600	Flanking Active TSS	Osteobl	bone
19	chr12:8815000-8815800	Flanking Active TSS	Fetal Muscle Leg	muscle
20	chr12:8815000-8817600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:8815200-8815600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr12:8815200-8815600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:8815200-8815600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr12:8815200-8815600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr12:8815200-8815600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:8815200-8815600	Flanking Active TSS	NH-A	brain
27	chr12:8815200-8815800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:8815200-8817800	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:8815200-8821000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:8815400-8815600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr12:8815400-8815600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:8815400-8815600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr12:8815400-8815800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr12:8815400-8815800	Flanking Active TSS	HSMMtube	muscle
35	chr12:8815400-8816600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:8815400-8816600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr12:8815400-8817400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr12:8815400-8817800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:8815400-8817800	Enhancers	Placenta	Placenta
40	chr12:8815400-8818400	Weak transcription	Fetal Stomach	stomach

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