Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr12:76086764-76087013	MCF10A-Er-Src	breast:	n/a	n/a

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10785203	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10879958	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10879961	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10879962	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10879964	0.83[EUR][1000 genomes]
rs11180635	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11180636	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs11180642	0.95[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs11180643	0.85[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs12296932	0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs17115468	0.90[YRI][hapmap]
rs4264187	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6582297	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs7304883	0.85[YRI][hapmap]
rs7304886	0.86[YRI][hapmap]
rs7486504	0.86[YRI][hapmap]
rs7486654	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs7967498	0.85[CEU][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv899314	chr12:76079814-76110751	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76076200-76098400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:76079000-76093600	Weak transcription	Psoas Muscle	Psoas
3	chr12:76079400-76099800	Weak transcription	Right Atrium	heart
4	chr12:76083600-76087400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr12:76084400-76087800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:76084400-76087800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:76084600-76088400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:76084600-76088400	Weak transcription	K562	blood
9	chr12:76084600-76088600	Weak transcription	A549	lung
10	chr12:76084600-76099600	Weak transcription	Pancreas	Pancrea
11	chr12:76085000-76087800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:76085400-76087400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:76086200-76093600	Weak transcription	NHLF	lung
14	chr12:76086400-76087800	Weak transcription	NHEK	skin
15	chr12:76086400-76088200	Weak transcription	HMEC	breast
16	chr12:76086400-76088400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:76086600-76087200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr12:76086800-76099400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:76087000-76088000	Weak transcription	NHDF-Ad	bronchial
20	chr12:76087000-76088800	Weak transcription	Osteobl	bone

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