Variant report

Variant	rs2299191
Chromosome Location	chr7:87607183-87607184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10486998	1.00[AMR][1000 genomes]
rs12666125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12666563	1.00[AMR][1000 genomes]
rs12666742	1.00[AMR][1000 genomes]
rs12667129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12668088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12669259	1.00[AMR][1000 genomes]
rs12670500	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12670560	1.00[AMR][1000 genomes]
rs12674310	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16885871	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17146787	1.00[AMR][1000 genomes]
rs17149905	1.00[AMR][1000 genomes]
rs17149907	1.00[AMR][1000 genomes]
rs17149933	1.00[AMR][1000 genomes]
rs17149957	1.00[AMR][1000 genomes]
rs17149966	1.00[AMR][1000 genomes]
rs17150134	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2188829	1.00[AMR][1000 genomes]
rs2237535	0.94[ASN][1000 genomes]
rs2237536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2237538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2282944	1.00[AMR][1000 genomes]
rs2282945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2282946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2285648	1.00[AMR][1000 genomes]
rs3213633	1.00[AMR][1000 genomes]
rs36187880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3810881	1.00[AMR][1000 genomes]
rs4728719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4728721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4728723	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4728724	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4728728	1.00[AMR][1000 genomes]
rs4728729	1.00[AMR][1000 genomes]
rs971485	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1023352	chr7:87418818-88192925	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539005	chr7:87418818-88192925	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv525073	chr7:87535096-87812968	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87591200-87610800	Weak transcription	Brain Anterior Caudate	brain
2	chr7:87594400-87618000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:87600400-87610800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:87601000-87607400	Weak transcription	Dnd41	blood
5	chr7:87605000-87631400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:87607000-87622200	Weak transcription	GM12878-XiMat	blood

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