Variant report

Variant	rs2299226
Chromosome Location	chr7:86447703-86447704
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	chr7:86445813..86447954-chr7:86450421..86452211,2	K562	blood:
2	chr7:86440315..86443186-chr7:86444032..86448135,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10085471	0.91[ASN][1000 genomes]
rs10085604	0.84[EUR][1000 genomes]
rs10234440	0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10246519	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs10254088	0.92[CHB][hapmap]
rs10266758	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268818	0.98[ASN][1000 genomes]
rs10277739	0.86[CEU][hapmap];0.81[CHB][hapmap]
rs10487052	1.00[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap]
rs13229442	0.93[CHB][hapmap];0.85[JPT][hapmap]
rs1468412	0.86[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs1468413	0.85[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2158786	0.87[CHB][hapmap]
rs2190301	0.91[ASN][1000 genomes]
rs2237561	0.81[CHB][hapmap]
rs2237562	0.86[CEU][hapmap];0.81[CHB][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs2282965	0.81[CHB][hapmap]
rs2299219	0.81[CHD][hapmap]
rs36165845	0.91[ASN][1000 genomes]
rs6961677	0.81[CHB][hapmap]
rs6975875	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977175	0.84[EUR][1000 genomes]
rs723630	1.00[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap]
rs723631	0.87[CHB][hapmap]
rs727989	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs7341512	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs7804907	0.86[CEU][hapmap];0.81[CHB][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs7806785	0.86[CEU][hapmap];0.81[CHB][hapmap];0.86[EUR][1000 genomes]
rs970186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs982339	1.00[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][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	nsv1025032	chr7:86032479-86642973	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86442200-86449400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr7:86442200-86451800	Weak transcription	Brain Anterior Caudate	brain
3	chr7:86442200-86468400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:86443400-86480600	Weak transcription	Brain Angular Gyrus	brain
5	chr7:86444000-86449000	Weak transcription	Brain Substantia Nigra	brain
6	chr7:86444200-86448800	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:86444800-86452200	Weak transcription	Brain Cingulate Gyrus	brain

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