Variant report

Variant	rs71447527
Chromosome Location	chr12:8815398-8815399
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

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

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:8815359-8815409	SK-N-SH	brain:	n/a
2	chr12:8815359-8815409	BJ	skin:	n/a
3	chr12:8815359-8815409	CMK	blood:	n/a
4	chr12:8815359-8815409	HUVEC	blood vessel:	n/a
5	chr12:8815359-8815409	NHDF-neo	bronchial:	n/a
6	chr12:8815359-8815409	PANC-1	pancreas:	n/a
7	chr12:8815359-8815409	ProgFib	skin:	n/a
8	chr12:8815359-8815409	NHBE	bronchial:	n/a
9	chr12:8815359-8815409	PrEC	prostate:	n/a
10	chr12:8815359-8815409	SK-N-SH_RA	brain:	n/a
11	chr12:8815359-8815409	HAEpiC	amniotic membrane:	n/a
12	chr12:8815359-8815409	HRE	kidney:	n/a
13	chr12:8815359-8815409	Caco-2	colon:	n/a
14	chr12:8815359-8815409	NT2-D1	testis:	n/a
15	chr12:8815359-8815409	ovcar-3	ovarian:	n/a
16	chr12:8815359-8815409	GM12891	blood:	n/a
17	chr12:8815359-8815409	LNCaP	prostate:	n/a
18	chr12:8815359-8815409	HRPEpiC	eye:	n/a
19	chr12:8815359-8815409	AG04449	skin:	fetal
20	chr12:8815359-8815409	BE2_C	brain:	n/a
21	chr12:8815359-8815409	HRCEpiC	kidney:	n/a
22	chr12:8815359-8815409	GM12892	blood:	n/a
23	chr12:8815359-8815409	HCPEpiC	choroid plexus:	n/a
24	chr12:8815359-8815409	A549	lung:	n/a
25	chr12:8815359-8815409	PFSK-1	brain:	n/a
26	chr12:8815359-8815409	H1-hESC	embryonic stem cell:	embryo
27	chr12:8815359-8815409	AG10803	skin:	n/a
28	chr12:8815359-8815409	T-47D	breast:	n/a
29	chr12:8815359-8815409	MCF-7	breast:	n/a
30	chr12:8815359-8815409	K562	blood:	n/a
31	chr12:8815359-8815409	Hela-S3	cervix:	n/a
32	chr12:8815359-8815409	SKMC	muscle:	n/a
33	chr12:8815359-8815409	HPAEpiC	pulmonary alveolar:	n/a
34	chr12:8815359-8815409	ECC-1	luminal epithelium:	n/a
35	chr12:8815359-8815409	HIPEpiC	eye:	n/a
36	chr12:8815359-8815409	HCM	heart:	n/a
37	chr12:8815359-8815409	HCT-116	colon:	n/a
38	chr12:8815359-8815409	Hepatocyte	liver:	n/a
39	chr12:8815359-8815409	MCF10A-Er-Src	breast:	n/a
40	chr12:8815359-8815409	HEK293	kidney:	embryo
41	chr12:8815359-8815409	AoSMC	blood vessel:	n/a
42	chr12:8815359-8815409	U87	brain:	n/a
43	chr12:8815359-8815409	HL-60	blood:	n/a
44	chr12:8815359-8815409	RPTEC	kidney:	n/a
45	chr12:8815359-8815409	IMR90	lung:	fetal
46	chr12:8815359-8815409	GM19239	blood:	n/a
47	chr12:8815359-8815409	AG09309	skin:	n/a
48	chr12:8815359-8815409	SAEC	small airway:	n/a
49	chr12:8815359-8815409	NH-A	brain:	n/a
50	chr12:8815359-8815409	HepG2	liver:	n/a

No data

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

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12302099	0.84[EUR][1000 genomes]
rs12809190	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12811351	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12812133	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12812856	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12815106	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12817900	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12822141	0.87[EUR][1000 genomes]
rs12824174	0.87[EUR][1000 genomes]
rs12827693	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12827867	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12827904	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12829580	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12833793	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17802192	0.89[EUR][1000 genomes]
rs2377491	0.87[EUR][1000 genomes]
rs34716337	0.89[EUR][1000 genomes]
rs34720246	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34817631	0.89[EUR][1000 genomes]
rs34976145	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34978963	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35253464	0.87[EUR][1000 genomes]
rs35337965	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35365089	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35379247	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35565662	0.89[EUR][1000 genomes]
rs35701636	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35818804	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35866343	0.88[EUR][1000 genomes]
rs35896395	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56941823	0.92[EUR][1000 genomes]
rs6487313	0.81[EUR][1000 genomes]
rs71447526	0.88[EUR][1000 genomes]
rs71447528	0.81[EUR][1000 genomes]
rs73244416	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8811600-8815400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:8811800-8829600	Weak transcription	Thymus	Thymus
3	chr12:8813000-8815800	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr12:8813000-8816400	Flanking Active TSS	Hela-S3	cervix
5	chr12:8813400-8815600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:8813400-8815600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:8813400-8815600	Active TSS	HSMM	muscle
8	chr12:8813600-8815600	Active TSS	Fetal Muscle Trunk	muscle
9	chr12:8813600-8815800	Active TSS	NHDF-Ad	bronchial
10	chr12:8813800-8815400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr12:8814200-8815400	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr12:8814400-8815400	Active TSS	Stomach Smooth Muscle	stomach
13	chr12:8814400-8815800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:8814400-8823400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:8814600-8815400	Active TSS	Muscle Satellite Cultured Cells	--
16	chr12:8814600-8815400	Flanking Active TSS	Placenta	Placenta
17	chr12:8814600-8815600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:8814800-8815400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr12:8814800-8815400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:8814800-8815600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:8814800-8815800	Enhancers	HMEC	breast
22	chr12:8814800-8817200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:8815000-8815400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:8815000-8815400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr12:8815000-8815400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr12:8815000-8815400	Active TSS	Fetal Stomach	stomach
27	chr12:8815000-8815600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:8815000-8815600	Active TSS	Right Atrium	heart
29	chr12:8815000-8815600	Flanking Active TSS	NHEK	skin
30	chr12:8815000-8815600	Flanking Active TSS	Osteobl	bone
31	chr12:8815000-8815800	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr12:8815000-8817600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:8815200-8815400	Active TSS	HSMMtube	muscle
34	chr12:8815200-8815600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr12:8815200-8815600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:8815200-8815600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr12:8815200-8815600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr12:8815200-8815600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:8815200-8815600	Flanking Active TSS	NH-A	brain
40	chr12:8815200-8815800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:8815200-8817800	Weak transcription	Colon Smooth Muscle	Colon
42	chr12:8815200-8821000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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