Variant report

Variant	rs11735609
Chromosome Location	chr4:20821762-20821763
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10001877	0.80[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs10001999	1.00[JPT][hapmap]
rs10002410	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs10003614	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs10005254	0.80[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs10018257	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs10021498	0.86[JPT][hapmap]
rs10025134	0.80[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap]
rs10027311	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs10031021	0.90[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10938808	0.80[CHB][hapmap];0.93[JPT][hapmap]
rs10938809	0.93[JPT][hapmap]
rs11726329	0.80[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap]
rs11727733	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11934232	0.90[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap]
rs1388323	0.90[CHB][hapmap];0.93[JPT][hapmap];0.81[AFR][1000 genomes]
rs1388325	0.93[JPT][hapmap]
rs4697189	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs4697190	0.80[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs6447989	1.00[JPT][hapmap]
rs6828041	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs7660727	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs7660734	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs7672234	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs7682091	0.80[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap]
rs9799795	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9996124	0.80[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010145	chr4:20601908-21057992	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv537052	chr4:20601908-21057992	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv829876	chr4:20638736-20835621	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv869522	chr4:20724433-20938248	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	esv1848625	chr4:20760089-20821762	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	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
rs11735609	PACRGL	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20819000-20821800	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:20819200-20834400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:20821600-20822200	Weak transcription	Esophagus	oesophagus
4	chr4:20821600-20822600	Enhancers	Placenta Amnion	Placenta Amnion

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