Variant report

Variant	rs12717305
Chromosome Location	chr14:22133416-22133417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10137047	0.81[ASN][1000 genomes]
rs10138379	0.92[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.91[YRI][hapmap]
rs10138803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs10143044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs10145663	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs10146733	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs10147663	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10151604	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs11157092	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs11157094	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12435524	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12436422	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs28698926	0.87[ASN][1000 genomes]
rs3748364	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs4982482	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4982483	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs6571976	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs6571990	0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap]
rs7144733	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs8008166	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs8013567	0.96[CEU][hapmap];0.95[CHB][hapmap];0.84[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	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv2422459	chr14:21931624-22169502	Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv901479	chr14:22102800-22146832	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr14:22133400-22133800	Enhancers	H9 Cell Line	embryonic stem cell
2	chr14:22133400-22133800	Active TSS	Brain Substantia Nigra	brain

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