Variant report

Variant	rs12545906
Chromosome Location	chr8:127857500-127857501
allele	C/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	FOS	chr8:127857488-127857775	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr8:127857445-127857863	MCF10A-Er-Src	breast:	n/a	chr8:127857606-127857615
3	FOS	chr8:127857451-127857775	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr8:127857406-127858279	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr8:127857407-127857797	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr8:127857457-127857785	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr8:127857430-127857812	MCF10A-Er-Src	breast:	n/a	chr8:127857606-127857615
8	POLR2A	chr8:127857482-127857609	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
PCAT1	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10106550	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10156279	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10505487	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10505488	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10505489	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10505490	0.91[ASN][1000 genomes]
rs10956330	0.93[ASN][1000 genomes]
rs10956331	0.98[ASN][1000 genomes]
rs10956332	0.94[ASN][1000 genomes]
rs11779539	0.96[ASN][1000 genomes]
rs11986860	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11987858	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11989801	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11992578	0.99[ASN][1000 genomes]
rs13248340	0.91[ASN][1000 genomes]
rs13254736	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1400462	0.98[ASN][1000 genomes]
rs16901776	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16901778	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16901783	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16901785	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16901792	0.98[ASN][1000 genomes]
rs1972123	0.98[ASN][1000 genomes]
rs1973699	0.96[ASN][1000 genomes]
rs28409662	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28617317	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2893579	0.95[ASN][1000 genomes]
rs4870987	0.98[ASN][1000 genomes]
rs4870989	0.97[ASN][1000 genomes]
rs4870990	0.95[ASN][1000 genomes]
rs55814003	0.84[ASN][1000 genomes]
rs6984670	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6993010	0.97[ASN][1000 genomes]
rs6998093	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7816751	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7818682	0.86[ASN][1000 genomes]
rs7827311	0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7828801	0.98[ASN][1000 genomes]
rs7833497	0.98[ASN][1000 genomes]
rs7839993	0.98[ASN][1000 genomes]
rs7840654	0.88[AFR][1000 genomes]
rs7841842	0.91[ASN][1000 genomes]
rs975788	0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs979963	0.98[ASN][1000 genomes]
rs979964	0.98[ASN][1000 genomes]
rs979965	0.97[ASN][1000 genomes]
rs979966	0.97[ASN][1000 genomes]
rs986046	0.89[ASN][1000 genomes]
rs9987182	0.88[ASN][1000 genomes]
rs9987223	0.87[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1819408	chr8:127835876-127898165	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv6382	chr8:127845446-127890549	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:127846600-127858200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:127847600-127860000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:127853600-127857800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr8:127854400-127858200	Enhancers	Placenta	Placenta
5	chr8:127854400-127858600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:127855000-127858200	Weak transcription	Stomach Mucosa	stomach
7	chr8:127856000-127857800	Active TSS	Fetal Muscle Trunk	muscle
8	chr8:127856600-127858000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr8:127856600-127858600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:127856600-127858600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:127856800-127858000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:127857000-127857600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr8:127857000-127857600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:127857000-127857600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:127857000-127857600	Enhancers	Esophagus	oesophagus
16	chr8:127857000-127857600	Flanking Active TSS	NHEK	skin
17	chr8:127857000-127857800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr8:127857000-127857800	Flanking Active TSS	HSMMtube	muscle
19	chr8:127857000-127859600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:127857200-127857600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:127857200-127857800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:127857200-127857800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:127857200-127857800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:127857200-127859000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:127857400-127857600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:127857400-127857600	Enhancers	Lung	lung
27	chr8:127857400-127857600	Enhancers	Psoas Muscle	Psoas
28	chr8:127857400-127857600	Flanking Active TSS	HMEC	breast
29	chr8:127857400-127857800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr8:127857400-127857800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr8:127857400-127857800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr8:127857400-127857800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr8:127857400-127857800	Enhancers	Adipose Nuclei	Adipose
34	chr8:127857400-127857800	Flanking Active TSS	Fetal Muscle Leg	muscle
35	chr8:127857400-127858600	Enhancers	HSMM	muscle
36	chr8:127857400-127862000	Weak transcription	Fetal Kidney	kidney

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