Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr1:168863132-168863524	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
SUMO1P2	TF binding region

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1028642	1.00[CHB][hapmap]
rs10489363	0.83[CHB][hapmap]
rs10753781	0.82[ASN][1000 genomes]
rs10800390	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10800391	0.82[AFR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10800392	0.82[ASN][1000 genomes]
rs10800393	0.83[CHD][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs10919011	0.85[CHD][hapmap]
rs10919013	0.86[CHB][hapmap]
rs12133503	0.83[CHB][hapmap]
rs12134708	0.83[CHB][hapmap]
rs12562255	0.83[CHB][hapmap]
rs1322498	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1322499	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1590285	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16861737	0.83[CHB][hapmap]
rs2146205	0.95[CHB][hapmap];0.82[CHD][hapmap]
rs2419395	0.83[CHB][hapmap]
rs4656162	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4656163	0.81[ASN][1000 genomes]
rs4656624	0.80[ASN][1000 genomes]
rs6427155	0.80[ASN][1000 genomes]
rs6683236	0.80[ASN][1000 genomes]
rs6683991	0.83[CHD][hapmap];0.90[JPT][hapmap]
rs7518480	0.83[CHB][hapmap]
rs7537225	0.87[CHB][hapmap];0.88[MEX][hapmap]
rs7544924	0.97[AFR][1000 genomes];0.88[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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv437258	chr1:168824111-168890420	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1407477	XCL1	cis	parietal	SCAN
rs1407477	POGK	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168861800-168865200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:168862000-168865000	Enhancers	Fetal Lung	lung
3	chr1:168862400-168877000	Weak transcription	Fetal Heart	heart
4	chr1:168862600-168864000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:168862800-168863600	Enhancers	Psoas Muscle	Psoas
6	chr1:168863000-168863400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:168863200-168865000	Weak transcription	Fetal Stomach	stomach
8	chr1:168863200-168867800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:168863200-168867800	Weak transcription	NHEK	skin
10	chr1:168863200-168868000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:168863200-168868400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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