Variant report

Variant	rs1111705
Chromosome Location	chr6:164211973-164211974
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:164194495..164199881-chr6:164208039..164212902,6	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1040641	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10945921	0.81[CHB][hapmap]
rs13203619	0.88[ASN][1000 genomes]
rs2015261	0.93[ASN][1000 genomes]
rs2321978	0.85[CHB][hapmap]
rs2321979	0.81[CHB][hapmap]
rs4709760	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709765	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4709766	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4709769	0.81[CHB][hapmap]
rs4709773	0.83[ASN][1000 genomes]
rs6925383	0.93[ASN][1000 genomes]
rs7762180	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7765258	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8180622	0.97[ASN][1000 genomes]
rs880095	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9295231	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9295232	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9295233	0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9295234	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9346974	0.92[ASN][1000 genomes]
rs9346975	0.88[ASN][1000 genomes]
rs9347790	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9347791	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9347792	0.97[ASN][1000 genomes]
rs9347793	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9347798	0.83[ASN][1000 genomes]
rs9355439	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9355440	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9355441	0.81[CHB][hapmap]
rs9355442	0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9356148	0.85[ASN][1000 genomes]
rs9356152	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9356153	0.93[ASN][1000 genomes]
rs9356156	0.88[ASN][1000 genomes]
rs9364701	0.85[ASN][1000 genomes]
rs9364703	0.93[ASN][1000 genomes]
rs9365619	0.95[ASN][1000 genomes]
rs9365620	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9456883	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9456885	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription 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	14 gene(s)	inside rSNPs	diseases
3	nsv1026707	chr6:164188210-164749206	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv538527	chr6:164188210-164749206	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1111705	PACRG	cis	cerebellum	SCAN
rs1111705	NCRNA00241	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164209200-164212000	Enhancers	Fetal Muscle Leg	muscle
2	chr6:164210200-164212000	Enhancers	Fetal Stomach	stomach
3	chr6:164210200-164212200	Enhancers	HSMMtube	muscle
4	chr6:164210400-164212000	Enhancers	Brain Germinal Matrix	brain
5	chr6:164210600-164212000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:164210600-164214200	Weak transcription	K562	blood
7	chr6:164210600-164214400	Weak transcription	GM12878-XiMat	blood
8	chr6:164210800-164212000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:164210800-164212000	Enhancers	Fetal Kidney	kidney
10	chr6:164211200-164212000	Enhancers	Adipose Nuclei	Adipose
11	chr6:164211200-164212200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:164211200-164212200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr6:164211400-164212000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:164211400-164212000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr6:164211400-164212000	Enhancers	Fetal Brain Male	brain
16	chr6:164211600-164212000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:164211600-164212000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:164211600-164212000	Enhancers	Brain Anterior Caudate	brain
19	chr6:164211600-164212200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:164211600-164212800	Enhancers	HSMM	muscle
21	chr6:164211600-164213800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:164211600-164214200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr6:164211800-164212000	Enhancers	Psoas Muscle	Psoas
24	chr6:164211800-164212200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:164211800-164214400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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