Variant report

Variant	rs7316110
Chromosome Location	chr12:63715006-63715007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:63714796..63717603-chr12:63718432..63720998,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11174933	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12423193	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12425246	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12425698	0.81[EUR][1000 genomes]
rs12425940	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12579351	0.81[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12579366	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12826328	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12829225	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12833535	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17099296	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1840663	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1975781	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34123586	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34913063	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35497595	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs68061837	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs68186933	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7136185	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs722918	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs722919	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7296432	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73128322	0.81[EUR][1000 genomes]
rs7961941	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs936148	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9668487	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9888446	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1035736	chr12:63526274-63920372	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541510	chr12:63526274-63920372	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1052866	chr12:63562442-63879794	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv541511	chr12:63562442-63879794	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv832438	chr12:63571652-63745827	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv832439	chr12:63688083-63865226	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63710800-63715200	Enhancers	HMEC	breast
2	chr12:63712200-63716400	Enhancers	Dnd41	blood
3	chr12:63714000-63718800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:63714800-63715600	Enhancers	Thymus	Thymus
5	chr12:63715000-63715400	Enhancers	Fetal Thymus	thymus

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