Variant report

Variant	rs7005870
Chromosome Location	chr8:52259037-52259038
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	chr8:52251881..52254852-chr8:52256264..52259163,2	K562	blood:

Variant related genes	Relation type
ENSG00000147485	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10091690	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10099560	0.94[AFR][1000 genomes]
rs10099699	0.94[AFR][1000 genomes]
rs10110031	0.94[AFR][1000 genomes]
rs1123900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11774588	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11775272	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11777020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11777607	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11777663	0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11780044	0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11780126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11780926	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11782525	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11786018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11786053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11787070	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11787165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16916021	0.85[AFR][1000 genomes]
rs16916024	0.85[AFR][1000 genomes]
rs17176316	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2392834	0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2392835	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6982243	0.85[AFR][1000 genomes]
rs6985145	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs6985579	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs6986409	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs6992306	0.92[YRI][hapmap]
rs6993031	0.92[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	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv948338	chr8:52060314-52368754	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr8:52258600-52259400	Enhancers	Right Atrium	heart
2	chr8:52258800-52259200	Weak transcription	Left Ventricle	heart

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