Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:30908038..30909570-chr12:30918182..30920609,2	K562	blood:
2	chr12:30910152..30913762-chr12:30918639..30921470,3	MCF-7	breast:
3	chr12:30919288..30921855-chr12:30972416..30974087,2	K562	blood:

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10444423	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs10743729	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs10771768	0.90[JPT][hapmap]
rs10843804	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs10843814	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs10843816	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs10843817	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs10843822	1.00[JPT][hapmap]
rs10843824	1.00[JPT][hapmap]
rs10843833	0.90[JPT][hapmap]
rs10843835	0.90[JPT][hapmap]
rs11051005	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs11051050	1.00[JPT][hapmap]
rs11051053	0.90[JPT][hapmap]
rs11051061	1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11051063	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12146709	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs12303852	0.89[JPT][hapmap]
rs12370947	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs12579182	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12809335	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs12830910	0.81[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap]
rs2241828	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs2289302	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs2304630	0.89[JPT][hapmap]
rs4082413	0.90[JPT][hapmap]
rs6487939	0.89[JPT][hapmap]
rs7304221	0.90[JPT][hapmap]
rs7952744	0.89[JPT][hapmap]
rs7957141	0.90[JPT][hapmap]
rs7966063	0.86[JPT][hapmap]
rs7971762	0.90[JPT][hapmap]
rs7971870	0.90[JPT][hapmap]
rs7980510	0.84[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv3371244	chr12:30916285-30920583	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12824388	IPO8	cis	Artery Tibial	GTEx
rs12824388	IPO8	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30918200-30924200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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