Variant report

Variant	rs7563478
Chromosome Location	chr2:234510446-234510447
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1551286	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17862835	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17862844	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17862846	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17862848	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17862851	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs17862854	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs17862859	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs17863784	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs17864666	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17864670	0.89[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17864671	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17864675	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17864689	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17864691	0.84[EUR][1000 genomes]
rs17864692	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17868298	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17868299	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17868301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17868318	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17868320	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs28898590	0.84[EUR][1000 genomes]
rs56125405	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs56143032	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6714486	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs6755571	0.84[EUR][1000 genomes]
rs7585521	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	esv3445986	chr2:234494952-234557707	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
5	nsv876014	chr2:234495742-234545861	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
6	esv3419326	chr2:234498411-234560470	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
7	esv2762307	chr2:234504523-234561979	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
8	nsv1007561	chr2:234507291-234560670	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	nsv536181	chr2:234507291-234560670	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	9 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	chr2:234508000-234511000	Weak transcription	Liver	Liver
2	chr2:234509400-234510800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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