Variant report

Variant	rs12678974
Chromosome Location	chr8:3304180-3304181
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	chr8:3298941..3301570-chr8:3303048..3305211,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10096046	0.92[ASN][1000 genomes]
rs10113529	0.90[ASN][1000 genomes]
rs12543952	0.91[AMR][1000 genomes]
rs12544056	0.91[AMR][1000 genomes]
rs12544481	0.91[AMR][1000 genomes]
rs12546181	0.91[AMR][1000 genomes]
rs12547951	0.91[AMR][1000 genomes]
rs12678935	0.95[ASN][1000 genomes]
rs12681510	0.98[ASN][1000 genomes]
rs28400437	0.94[ASN][1000 genomes]
rs28438564	0.89[ASN][1000 genomes]
rs28465534	0.94[ASN][1000 genomes]
rs28525140	0.92[ASN][1000 genomes]
rs28594776	0.92[ASN][1000 genomes]
rs35531297	0.91[AMR][1000 genomes]
rs58484378	0.86[ASN][1000 genomes]
rs62505604	0.89[ASN][1000 genomes]
rs62505622	0.94[ASN][1000 genomes]
rs62505623	0.95[ASN][1000 genomes]
rs7018165	0.88[ASN][1000 genomes]
rs7018325	0.88[ASN][1000 genomes]
rs73497412	0.94[ASN][1000 genomes]
rs73497427	0.95[ASN][1000 genomes]
rs73657861	0.81[ASN][1000 genomes]
rs73657864	0.81[ASN][1000 genomes]
rs73657865	0.83[ASN][1000 genomes]
rs73657866	0.84[ASN][1000 genomes]
rs73657867	0.84[ASN][1000 genomes]
rs73657869	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73657872	0.86[ASN][1000 genomes]
rs73657876	0.86[ASN][1000 genomes]
rs73657877	0.86[ASN][1000 genomes]
rs73657878	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033589	chr8:2498609-3305100	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1018407	chr8:2724294-3305100	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1025209	chr8:3067655-3754882	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1026998	chr8:3102679-3593264	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1034076	chr8:3168033-3989947	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv539351	chr8:3168033-3989947	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1017164	chr8:3174168-4026811	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv539352	chr8:3174168-4026811	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1018218	chr8:3180287-4089011	Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1033242	chr8:3283564-3304283	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3295000-3320200	Weak transcription	Brain Substantia Nigra	brain
2	chr8:3303600-3304600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:3303800-3304600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:3303800-3304600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr8:3303800-3304800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:3304000-3304400	Enhancers	Brain Anterior Caudate	brain
7	chr8:3304000-3304800	Enhancers	Cortex derived primary cultured neurospheres	brain

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