Variant report

Variant	rs12894518
Chromosome Location	chr14:22171093-22171094
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10132760	0.90[CEU][hapmap]
rs10148566	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10151114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1018344	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1018345	0.90[CEU][hapmap]
rs12431503	0.86[JPT][hapmap]
rs12589185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12589513	0.85[JPT][hapmap]
rs12589962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17182761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1997532	0.90[CEU][hapmap]
rs1997533	0.90[CEU][hapmap]
rs2319874	0.92[ASN][1000 genomes]
rs2319875	0.92[ASN][1000 genomes]
rs28575550	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs4513011	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4528483	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4628878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4982486	0.85[JPT][hapmap]
rs4982487	0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs55654479	0.92[ASN][1000 genomes]
rs6650488	0.85[JPT][hapmap]
rs7143695	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7148008	0.82[JPT][hapmap];0.86[YRI][hapmap]
rs7150049	0.90[CEU][hapmap]
rs7155323	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7158141	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8003447	0.85[CEU][hapmap]
rs8011341	0.81[CEU][hapmap]
rs8011509	0.90[CEU][hapmap]
rs8011979	0.90[CEU][hapmap]
rs8013476	0.95[CEU][hapmap];0.95[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8016911	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8018604	0.90[CEU][hapmap]
rs8019537	0.85[CEU][hapmap]
rs8020038	0.85[JPT][hapmap]
rs8020165	0.90[CEU][hapmap];0.85[JPT][hapmap];0.91[YRI][hapmap]
rs8022088	0.89[CEU][hapmap]
rs8022425	1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap]
rs9323020	0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042309	chr14:22042511-22866936	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	90 gene(s)	inside rSNPs	diseases
2	nsv456147	chr14:22073473-22305071	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv563851	chr14:22073473-22305071	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv510629	chr14:22134425-22215842	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22170400-22173600	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr14:22171000-22171400	Enhancers	Rectal Mucosa Donor 29	rectum

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