Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210913946..210916328-chr1:210919386..210921041,2	MCF-7	breast:

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

rs_ID	r²[population]
rs12123293	1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12142954	0.86[ASN][1000 genomes]
rs12562303	0.91[JPT][hapmap]
rs12562536	1.00[JPT][hapmap]
rs12563193	1.00[JPT][hapmap]
rs12565452	0.91[JPT][hapmap]
rs1538755	0.82[CHD][hapmap];1.00[JPT][hapmap]
rs17016775	0.81[CHD][hapmap]
rs1934614	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs1953951	0.81[CHD][hapmap]
rs1970589	0.92[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs4951563	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.84[MKK][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4951566	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.85[YRI][hapmap];0.95[ASN][1000 genomes]
rs4951576	0.91[JPT][hapmap]
rs4951591	0.91[JPT][hapmap]
rs56264689	0.84[ASN][1000 genomes]
rs61829493	0.87[ASN][1000 genomes]
rs6694502	0.85[CHB][hapmap];0.89[CHD][hapmap];0.92[JPT][hapmap]
rs74156059	0.81[ASN][1000 genomes]
rs74156061	0.81[ASN][1000 genomes]
rs9430047	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs9430049	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv873153	chr1:210900481-210994339	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv999018	chr1:210907239-210999306	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17016821	CR2	cis	cerebellum	SCAN
rs17016821	DTL	cis	cerebellum	SCAN
rs17016821	KCNH1	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210871200-210932000	Weak transcription	HSMM	muscle
2	chr1:210903800-210919200	Weak transcription	HSMMtube	muscle
3	chr1:210905600-210921200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:210910600-210921200	Weak transcription	Brain Angular Gyrus	brain

Quick Search: