Variant report

Variant	rs7568873
Chromosome Location	chr2:152427249-152427250
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152423732..152425326-chr2:152425773..152428506,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10174130	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10186482	0.80[CEU][hapmap]
rs10187997	0.85[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs10210564	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12996964	0.81[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs13383484	0.81[ASN][1000 genomes]
rs2288201	0.82[CEU][hapmap];0.85[CHB][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2288203	0.81[AMR][1000 genomes]
rs2288210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2432951	0.93[JPT][hapmap]
rs2444272	0.85[YRI][hapmap]
rs2444274	0.82[YRI][hapmap]
rs3213818	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34829854	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3815851	0.82[YRI][hapmap]
rs4233651	0.91[CHB][hapmap];0.84[JPT][hapmap]
rs4315520	0.92[JPT][hapmap]
rs4664055	0.81[CEU][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4664056	0.81[CEU][hapmap];0.81[AMR][1000 genomes]
rs4664064	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4664065	0.89[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4664486	0.81[CEU][hapmap];0.80[AMR][1000 genomes]
rs4664493	0.81[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs4994327	0.80[YRI][hapmap]
rs6433482	0.87[YRI][hapmap];0.82[AFR][1000 genomes]
rs6707824	0.84[JPT][hapmap]
rs6709886	0.81[ASN][1000 genomes]
rs6720169	0.84[CEU][hapmap]
rs6725513	0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs6732307	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6735678	0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs7419413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7421893	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7422136	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7424331	0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7563568	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7602828	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9287981	0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs9287982	0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs9287983	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 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	esv3693428	chr2:152320932-152434896	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	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
7	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
8	esv1793381	chr2:152370040-152463631	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv10198	chr2:152370068-152463644	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
rs7568873	RIF1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152409400-152437000	Weak transcription	Psoas Muscle	Psoas
2	chr2:152416200-152427400	Strong transcription	Fetal Muscle Trunk	muscle
3	chr2:152416200-152434400	Strong transcription	Fetal Muscle Leg	muscle
4	chr2:152427000-152433800	Strong transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:152427200-152429000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:152427200-152429800	Weak transcription	HSMMtube	muscle

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