Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:21311294..21314018-chr10:21316191..21318955,2	MCF-7	breast:
2	chr10:21308174..21311563-chr10:21311855..21315770,3	K562	blood:

Variant related genes	Relation type
ENSG00000228753	Chromatin interaction

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

rs_ID	r²[population]
rs10764301	0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs10828173	0.86[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap]
rs10828175	0.91[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs10828176	0.86[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs11012479	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs11012483	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs11012485	0.86[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap]
rs11012486	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs11012489	0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs11012491	0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs11012492	0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs11816130	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs11817951	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs16921415	0.86[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap]
rs3858200	0.95[JPT][hapmap]
rs6482158	0.86[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap]
rs7079324	0.80[ASN][1000 genomes]
rs7079790	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs7904906	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs7920067	0.86[CHB][hapmap];0.91[JPT][hapmap]

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	nsv530148	chr10:21065080-21724565	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv975768	chr10:21313038-21319916	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs661924	BMI1	cis	parietal	SCAN
rs661924	NSUN6	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:21290400-21319800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:21305200-21315600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr10:21305200-21319800	Weak transcription	Brain Hippocampus Middle	brain
4	chr10:21309000-21318600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:21309600-21316400	Weak transcription	Spleen	Spleen
6	chr10:21311200-21318000	Weak transcription	Lung	lung
7	chr10:21311200-21322200	Weak transcription	Brain Anterior Caudate	brain
8	chr10:21312400-21314200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr10:21312400-21318000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr10:21313400-21313800	Weak transcription	Fetal Lung	lung

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