Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29193593..29195791-chr22:29251610..29254228,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10222249	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13056243	0.84[CEU][hapmap]
rs132534	0.84[TSI][hapmap]
rs132539	0.84[TSI][hapmap]
rs16986825	0.84[CEU][hapmap]
rs16986838	0.84[CEU][hapmap]
rs16986861	0.84[CEU][hapmap]
rs16986864	0.84[CEU][hapmap]
rs2239815	0.80[TSI][hapmap]
rs2347447	0.80[TSI][hapmap]
rs3788409	0.80[TSI][hapmap]
rs4055	0.84[CEU][hapmap]
rs5752797	0.94[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs5762795	0.80[TSI][hapmap]
rs5762799	0.94[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap]
rs5762813	0.81[EUR][1000 genomes]
rs5762853	0.80[EUR][1000 genomes]
rs5762861	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762863	0.81[EUR][1000 genomes]
rs5762864	0.81[EUR][1000 genomes]
rs6005915	0.80[TSI][hapmap]
rs6005922	0.91[AFR][1000 genomes]
rs6005929	0.80[EUR][1000 genomes]
rs7287806	0.80[TSI][hapmap]
rs739196	0.84[CEU][hapmap]
rs763073	0.80[TSI][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	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs5762862	MN1	cis	cerebellum	SCAN
rs5762862	UPB1	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29251400-29253600	Enhancers	HepG2	liver
2	chr22:29252000-29253000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:29252000-29253000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr22:29252200-29253200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr22:29252200-29253400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr22:29252400-29253400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr22:29252400-29254200	Weak transcription	Liver	Liver
8	chr22:29252400-29261000	Weak transcription	Fetal Intestine Small	intestine

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