Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:134853213..134856024-chr3:134858094..134860828,2	K562	blood:
2	chr3:134853213..134856667-chr3:134858094..134860828,3	K562	blood:

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1159402	0.87[EUR][1000 genomes]
rs1404581	1.00[JPT][hapmap]
rs1554675	1.00[JPT][hapmap]
rs2177693	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2400443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3772645	1.00[JPT][hapmap]
rs6439559	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs6772933	1.00[JPT][hapmap]
rs6801065	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6805145	1.00[JPT][hapmap]
rs6810117	0.83[GIH][hapmap]
rs73218243	0.88[EUR][1000 genomes]
rs7373413	0.83[LWK][hapmap];0.85[MKK][hapmap];0.82[YRI][hapmap]
rs7373775	1.00[JPT][hapmap]
rs7611233	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs7647433	1.00[JPT][hapmap]
rs872514	1.00[JPT][hapmap]
rs9836334	1.00[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	nsv1000277	chr3:134546080-134970837	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv877516	chr3:134689420-134918522	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv829731	chr3:134711713-134885064	Strong transcription Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs868909	UBA5	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134823000-134880000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:134850600-134860200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:134855800-134862000	Weak transcription	GM12878-XiMat	blood
4	chr3:134856600-134861400	Enhancers	Fetal Brain Male	brain
5	chr3:134858000-134861400	Enhancers	Brain Cingulate Gyrus	brain
6	chr3:134858400-134860800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:134858400-134861000	Enhancers	Brain Substantia Nigra	brain
8	chr3:134858600-134860800	Enhancers	Brain Angular Gyrus	brain
9	chr3:134858600-134861600	Enhancers	Fetal Brain Female	brain
10	chr3:134858800-134861400	Enhancers	Brain Hippocampus Middle	brain
11	chr3:134859000-134860800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr3:134859000-134860800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr3:134859200-134860200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr3:134859200-134869800	Enhancers	Liver	Liver
15	chr3:134859400-134860200	Enhancers	Brain Anterior Caudate	brain
16	chr3:134859400-134861400	Enhancers	Brain Germinal Matrix	brain
17	chr3:134859600-134860000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:134859600-134860400	Weak transcription	Left Ventricle	heart
19	chr3:134859600-134873600	Weak transcription	Right Ventricle	heart
20	chr3:134859800-134860200	Weak transcription	Psoas Muscle	Psoas
21	chr3:134859800-134860800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

Quick Search: