Variant report

Variant	rs4664064
Chromosome Location	chr2:152465805-152465806
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10174130	0.82[AMR][1000 genomes]
rs10186482	0.81[JPT][hapmap]
rs13383484	0.82[EUR][1000 genomes]
rs2288201	0.82[CEU][hapmap];0.83[AMR][1000 genomes]
rs2288203	0.80[AMR][1000 genomes]
rs2288210	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3213818	0.83[AMR][1000 genomes]
rs34829854	0.83[AMR][1000 genomes]
rs4575719	0.81[AMR][1000 genomes]
rs4664055	0.80[CEU][hapmap];0.82[AMR][1000 genomes]
rs4664056	0.80[CEU][hapmap];0.89[YRI][hapmap];0.80[AMR][1000 genomes]
rs4664065	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4664486	0.80[CEU][hapmap];0.89[YRI][hapmap]
rs4664493	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs6414089	0.87[YRI][hapmap]
rs6709886	0.83[EUR][1000 genomes]
rs6720169	0.84[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6732307	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7419413	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7421893	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7422136	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7424331	0.81[EUR][1000 genomes]
rs7563568	0.82[AMR][1000 genomes]
rs7568873	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7602828	0.82[AMR][1000 genomes]
rs9287983	0.80[CEU][hapmap];0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
4	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv2974	chr2:152401495-152499455	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv469804	chr2:152404429-152570882	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv482520	chr2:152404429-152570882	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv963734	chr2:152433475-152466257	Strong transcription Enhancers Weak transcription Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
11	esv1797169	chr2:152433970-152466350	Genic enhancers Enhancers Strong transcription Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
12	esv1800583	chr2:152433970-152480935	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv471510	chr2:152434354-152466137	Genic enhancers Strong transcription Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
14	esv1799814	chr2:152435851-152472667	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv1794630	chr2:152436051-152467061	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
16	esv1795796	chr2:152436051-152477968	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4664064	RIF1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152434000-152466200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:152448800-152466000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:152448800-152466200	Weak transcription	HSMMtube	muscle
4	chr2:152460600-152489200	Weak transcription	Psoas Muscle	Psoas
5	chr2:152464000-152466200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:152465400-152478200	Strong transcription	Fetal Muscle Leg	muscle
7	chr2:152465400-152491400	Weak transcription	Primary B cells from cord blood	blood
8	chr2:152465600-152466600	Enhancers	Liver	Liver

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