Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4156540..4159328-chr12:4165038..4167941,2	K562	blood:
2	chr12:4165421..4167716-chr12:4167948..4169953,2	K562	blood:

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

rs_ID	r²[population]
rs10774193	0.80[EUR][1000 genomes]
rs10774197	0.80[GIH][hapmap];0.85[TSI][hapmap]
rs10848978	0.81[JPT][hapmap]
rs10848981	0.82[EUR][1000 genomes]
rs10848982	0.82[EUR][1000 genomes]
rs10848983	0.83[GIH][hapmap];0.81[TSI][hapmap]
rs11063002	0.83[EUR][1000 genomes]
rs11063003	0.83[EUR][1000 genomes]
rs11063004	0.81[TSI][hapmap]
rs12229320	0.83[GIH][hapmap];0.85[TSI][hapmap]
rs2003578	0.82[EUR][1000 genomes]
rs2003579	0.82[EUR][1000 genomes]
rs2098332	0.92[EUR][1000 genomes]
rs2358593	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2540139	0.82[AMR][1000 genomes]
rs2724204	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs741244	0.83[EUR][1000 genomes]
rs741245	0.83[EUR][1000 genomes]
rs759312	0.83[EUR][1000 genomes]
rs7969060	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv832316	chr12:3981184-4180381	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	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
rs2247533	MRPL51	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4157000-4169000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:4160400-4169200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:4164200-4166600	Enhancers	Pancreas	Pancrea
4	chr12:4166000-4167200	Enhancers	Liver	Liver
5	chr12:4166200-4167400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr12:4166400-4166600	Enhancers	HepG2	liver
7	chr12:4166400-4167200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:4166400-4167600	Weak transcription	Fetal Stomach	stomach
9	chr12:4166400-4167800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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