Variant report

Variant	rs7817419
Chromosome Location	chr8:92316631-92316632
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	chr8:92306115..92308599-chr8:92313513..92316668,3	K562	blood:

Variant related genes	Relation type
ENSG00000147606	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10101694	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11991583	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13262139	0.94[ASN][1000 genomes]
rs13263714	0.94[ASN][1000 genomes]
rs13275473	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13280977	0.94[ASN][1000 genomes]
rs1448674	0.94[ASN][1000 genomes]
rs1562633	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34115889	0.94[ASN][1000 genomes]
rs34213542	0.81[ASN][1000 genomes]
rs34444723	0.94[ASN][1000 genomes]
rs34547129	0.81[ASN][1000 genomes]
rs34775583	0.94[ASN][1000 genomes]
rs34948223	0.94[ASN][1000 genomes]
rs34966681	0.94[ASN][1000 genomes]
rs34982674	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35159856	0.94[ASN][1000 genomes]
rs35162874	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35386021	0.94[ASN][1000 genomes]
rs35632298	0.94[ASN][1000 genomes]
rs35717576	0.81[ASN][1000 genomes]
rs35869355	0.81[ASN][1000 genomes]
rs4478534	0.94[ASN][1000 genomes]
rs4629825	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4639475	0.94[ASN][1000 genomes]
rs6981751	0.94[ASN][1000 genomes]
rs6983115	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6995995	0.94[ASN][1000 genomes]
rs7016454	0.94[ASN][1000 genomes]
rs71528791	0.81[ASN][1000 genomes]
rs71528792	0.94[ASN][1000 genomes]
rs7814787	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7823924	0.94[ASN][1000 genomes]
rs7824716	0.94[ASN][1000 genomes]
rs7827280	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829485	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831823	0.94[ASN][1000 genomes]
rs7833573	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834807	0.94[ASN][1000 genomes]
rs7836721	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7846165	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9657000	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs968398	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs996693	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs996694	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92297600-92331800	Weak transcription	Pancreas	Pancrea
2	chr8:92307600-92320200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:92315200-92316800	Enhancers	Rectal Smooth Muscle	rectum
4	chr8:92316600-92317200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:92316600-92317200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:92316600-92317200	Enhancers	Colon Smooth Muscle	Colon
7	chr8:92316600-92317200	Enhancers	Left Ventricle	heart
8	chr8:92316600-92317400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:92316600-92317400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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