Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126487669..126490463-chr8:126500662..126505453,4	MCF-7	breast:
2	chr8:126488058..126489576-chr8:126500538..126503490,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10956250	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12164213	0.80[CEU][hapmap];0.87[CHB][hapmap];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12677676	0.90[CEU][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes]
rs12681878	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13271368	0.84[EUR][1000 genomes]
rs16900644	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs34087092	0.85[EUR][1000 genomes]
rs35192929	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35309034	0.85[EUR][1000 genomes]
rs4350001	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4552916	0.95[ASN][1000 genomes]
rs4870941	0.85[EUR][1000 genomes]
rs4870942	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55921265	0.86[EUR][1000 genomes]
rs6470358	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6470359	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6987702	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6989280	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7005535	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8180991	0.86[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	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7846135	NSMCE2	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126496600-126503000	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr8:126497200-126501800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:126497600-126501600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:126497800-126501600	Weak transcription	NHEK	skin
5	chr8:126498600-126509200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:126498600-126509800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:126499000-126503200	Weak transcription	Primary B cells from cord blood	blood
8	chr8:126499400-126503000	Weak transcription	Placenta	Placenta
9	chr8:126500200-126502000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr8:126500400-126502000	Weak transcription	Adipose Nuclei	Adipose
11	chr8:126500600-126501600	Weak transcription	Liver	Liver
12	chr8:126500600-126502000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr8:126500800-126502200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:126500800-126502200	Weak transcription	HepG2	liver

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