Variant report

Variant	rs10186482
Chromosome Location	chr2:152481977-152481978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152474324..152476009-chr2:152481234..152483014,2	K562	blood:
2	chr2:152479591..152483516-chr2:152681949..152685103,4	K562	blood:
3	chr2:152470745..152473720-chr2:152480140..152483557,3	K562	blood:
4	chr2:152470745..152473899-chr2:152481197..152482872,3	K562	blood:

Variant related genes	Relation type
ENSG00000162980	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13383484	0.89[EUR][1000 genomes]
rs2288196	0.85[JPT][hapmap]
rs2288202	0.85[JPT][hapmap]
rs2288210	0.80[CEU][hapmap]
rs3732310	0.85[JPT][hapmap]
rs4575719	0.85[JPT][hapmap]
rs4664056	0.81[GIH][hapmap];0.85[JPT][hapmap]
rs4664064	0.81[JPT][hapmap]
rs4664065	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs4664475	0.85[JPT][hapmap]
rs4664486	0.81[GIH][hapmap];0.85[JPT][hapmap]
rs4664493	0.84[CEU][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs6414089	0.85[JPT][hapmap]
rs6704618	0.84[JPT][hapmap]
rs6709886	0.90[EUR][1000 genomes]
rs6720169	0.93[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6721666	0.85[JPT][hapmap]
rs6730454	0.85[JPT][hapmap]
rs6732307	0.90[EUR][1000 genomes]
rs7422136	0.80[CEU][hapmap]
rs7568873	0.80[CEU][hapmap]
rs9287979	0.85[JPT][hapmap]
rs9287983	0.87[GIH][hapmap];0.85[JPT][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10186482	RIF1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:9 , 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

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