Variant report

Variant	rs4664491
Chromosome Location	chr2:152479986-152479987
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	chr2:152479591..152483516-chr2:152681949..152685103,4	K562	blood:
2	chr2:152478231..152481133-chr2:152482062..152484946,3	K562	blood:

Variant related genes	Relation type
ENSG00000162980	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10167358	0.94[CHB][hapmap];0.83[ASN][1000 genomes]
rs10172023	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10173699	0.87[CHB][hapmap]
rs10174077	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10186656	0.99[ASN][1000 genomes]
rs1047957	0.88[CHB][hapmap]
rs10497082	0.88[CHB][hapmap]
rs11892439	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13425170	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs2288193	0.86[CHB][hapmap]
rs2432946	0.87[CHB][hapmap]
rs2432956	0.87[CHB][hapmap]
rs2432957	0.87[CHB][hapmap]
rs2444264	0.87[CHB][hapmap]
rs3771901	0.83[CHB][hapmap];0.83[ASN][1000 genomes]
rs4461258	0.94[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs4592848	0.87[CHB][hapmap]
rs4664490	0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6718372	0.87[CHB][hapmap]
rs6750342	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	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
2	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
3	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
4	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
5	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
6	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
7	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4664491	RIF1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152460600-152489200	Weak transcription	Psoas Muscle	Psoas
2	chr2:152465400-152491400	Weak transcription	Primary B cells from cord blood	blood
3	chr2:152467800-152491400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:152472000-152491800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:152477400-152483200	Strong transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:152477600-152483400	Weak transcription	HSMMtube	muscle
7	chr2:152477600-152487000	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:152478200-152482000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:152478200-152482000	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:152479800-152480800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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