Variant report

Variant	rs7694208
Chromosome Location	chr4:20759614-20759615
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:20758225..20761110-chr4:20761707..20763289,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10022322	0.80[YRI][hapmap]
rs10031524	1.00[CEU][hapmap];0.80[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10084802	0.80[YRI][hapmap]
rs10938801	0.83[YRI][hapmap]
rs10938803	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11936560	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11940062	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12331966	0.80[YRI][hapmap]
rs12644782	0.82[YRI][hapmap]
rs1820505	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1985322	0.80[YRI][hapmap]
rs2052775	0.80[YRI][hapmap]
rs2114474	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2322687	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2322688	0.80[YRI][hapmap]
rs3764964	0.80[YRI][hapmap]
rs3764965	0.88[CEU][hapmap];0.89[YRI][hapmap]
rs3764966	0.80[YRI][hapmap]
rs3816874	0.89[CEU][hapmap];0.87[CHB][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4577580	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61428210	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6447971	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6447972	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6447973	0.96[CEU][hapmap];0.98[GIH][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6447975	0.85[YRI][hapmap]
rs6447976	0.80[YRI][hapmap]
rs6447978	0.80[YRI][hapmap]
rs6447982	0.90[YRI][hapmap]
rs6811030	0.80[YRI][hapmap]
rs6811933	0.84[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6857386	1.00[CEU][hapmap];0.80[CHB][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6858843	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7663837	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7668797	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7681691	0.82[YRI][hapmap]
rs7688592	1.00[CEU][hapmap];0.80[CHB][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7689421	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs964019	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs990206	0.90[YRI][hapmap]
rs9995697	0.80[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7694208	PACRGL	cis	lung	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20739200-20761200	Weak transcription	Fetal Heart	heart
2	chr4:20740600-20763600	Weak transcription	Brain Anterior Caudate	brain
3	chr4:20740800-20763600	Weak transcription	HSMMtube	muscle
4	chr4:20740800-20770600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:20740800-20791200	Weak transcription	Ovary	ovary
6	chr4:20746800-20761400	Weak transcription	Aorta	Aorta
7	chr4:20746800-20775000	Weak transcription	Left Ventricle	heart
8	chr4:20749600-20763800	Weak transcription	Brain Germinal Matrix	brain
9	chr4:20753000-20760400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:20755800-20761600	Weak transcription	Fetal Lung	lung
11	chr4:20757000-20763800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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