Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr12:10328763-10329280	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
TMEM52B	TF binding region
OLR1	TF binding region

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1050283	0.93[JPT][hapmap]
rs1050286	0.86[JPT][hapmap]
rs10505755	0.93[JPT][hapmap]
rs11053647	0.91[JPT][hapmap]
rs11053648	0.93[JPT][hapmap]
rs11053649	0.92[JPT][hapmap]
rs11053654	0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs12822177	0.92[JPT][hapmap]
rs2537777	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2537778	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2634164	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3736232	0.93[JPT][hapmap]
rs3736233	0.93[JPT][hapmap]
rs3736234	0.93[JPT][hapmap]
rs3736235	0.93[JPT][hapmap]
rs3816844	0.93[JPT][hapmap]
rs4764299	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6488265	0.93[JPT][hapmap];0.92[EUR][1000 genomes]
rs7296800	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7300650	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315498	1.00[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];1.00[ASN][1000 genomes]
rs7958778	0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10321800-10331200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:10325400-10330600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr12:10325400-10330600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr12:10325400-10335000	Weak transcription	A549	lung
5	chr12:10326200-10334800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:10327600-10329600	Enhancers	Fetal Intestine Large	intestine
7	chr12:10327600-10330200	Enhancers	Fetal Intestine Small	intestine
8	chr12:10327800-10330200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:10328600-10330600	Weak transcription	Placenta	Placenta
10	chr12:10328800-10330000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:10328800-10331400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:10329000-10329400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:10329000-10330000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:10329000-10330200	Enhancers	HMEC	breast
15	chr12:10329000-10331200	Weak transcription	Hela-S3	cervix
16	chr12:10329200-10330200	Enhancers	NHEK	skin

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