Variant report

Variant	rs8137034
Chromosome Location	chr22:32622539-32622540
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:32621030..32623210-chr22:32626100..32627785,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12157791	1.00[JPT][hapmap]
rs12160790	1.00[JPT][hapmap]
rs16990065	1.00[JPT][hapmap]
rs16990066	1.00[JPT][hapmap]
rs2068209	0.88[CHB][hapmap]
rs2142559	0.95[CEU][hapmap];0.88[CHB][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2179065	0.90[CEU][hapmap];0.88[CHB][hapmap];0.91[TSI][hapmap];0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2179066	0.88[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2235168	1.00[JPT][hapmap]
rs2235171	0.89[JPT][hapmap]
rs2294205	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2294206	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2294207	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2294211	0.89[JPT][hapmap]
rs5994491	1.00[JPT][hapmap]
rs5994496	1.00[JPT][hapmap]
rs5994502	1.00[JPT][hapmap]
rs5994503	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs5994511	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs5994512	1.00[JPT][hapmap]
rs5998300	1.00[JPT][hapmap]
rs5998317	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs5998318	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs5998321	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs5998323	0.88[CHB][hapmap]
rs5998326	1.00[JPT][hapmap]
rs5998328	0.88[CHB][hapmap]
rs5998329	0.88[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs5998330	0.88[CHB][hapmap]
rs7287853	0.88[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7289226	0.88[CHB][hapmap]
rs7291681	0.88[CHB][hapmap]
rs7292721	0.88[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948789	chr22:32462505-32764760	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1065175	chr22:32467617-32761093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv544680	chr22:32467617-32761093	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv2830423	chr22:32477718-32767825	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv834178	chr22:32490449-32677521	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
8	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
9	nsv3597	chr22:32588424-32632724	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	esv2753006	chr22:32592120-32719481	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8137034	CCDC117	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32600800-32622800	Weak transcription	Right Atrium	heart
2	chr22:32603600-32625000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr22:32614000-32622800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr22:32614800-32629000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr22:32618600-32624200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr22:32621000-32623000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr22:32621400-32623600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr22:32621600-32623000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:32622200-32622800	Enhancers	Fetal Kidney	kidney
10	chr22:32622200-32623000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:32622200-32623000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:32622200-32623000	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr22:32622200-32623200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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