Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179122190..179123778-chr2:179127950..179129848,2	K562	blood:

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs101266	0.88[JPT][hapmap]
rs10197166	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs11887212	0.89[AFR][1000 genomes]
rs12476671	1.00[JPT][hapmap]
rs13403689	0.82[CHB][hapmap]
rs147180	0.88[JPT][hapmap]
rs2366157	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs333992	0.88[CEU][hapmap];0.94[JPT][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs333993	0.88[CEU][hapmap];0.94[JPT][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs333994	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs333995	0.88[CEU][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs333996	0.81[JPT][hapmap]
rs333997	0.88[JPT][hapmap]
rs334005	0.81[JPT][hapmap]
rs334007	0.81[JPT][hapmap]
rs334009	1.00[JPT][hapmap]
rs334013	1.00[JPT][hapmap]
rs334014	1.00[JPT][hapmap]
rs334017	0.81[JPT][hapmap]
rs334035	0.80[JPT][hapmap]
rs334040	0.82[ASW][hapmap];0.81[JPT][hapmap]
rs334042	0.81[JPT][hapmap]
rs334045	0.81[JPT][hapmap]
rs334604	0.81[JPT][hapmap]
rs334616	0.88[JPT][hapmap]
rs334631	0.85[EUR][1000 genomes]
rs551368	0.88[JPT][hapmap]
rs6719178	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs6756651	0.82[JPT][hapmap]
rs7599683	0.82[JPT][hapmap]
rs9989738	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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1011423	chr2:179084407-179166160	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs334002	FKBP7	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179111200-179137400	Weak transcription	Right Atrium	heart
2	chr2:179124000-179130800	Weak transcription	Psoas Muscle	Psoas
3	chr2:179124200-179133200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:179124800-179134400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:179126000-179136600	Weak transcription	Aorta	Aorta
6	chr2:179127800-179130000	Enhancers	K562	blood
7	chr2:179128200-179129400	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:179128800-179129200	Enhancers	Skeletal Muscle Female	skeletal muscle

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