Variant report

Variant	rs6468808
Chromosome Location	chr8:103005491-103005492
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	chr8:102997971..102999625-chr8:103005470..103007270,2	MCF-7	breast:
2	chr8:102995439..102996977-chr8:103003871..103005694,2	K562	blood:

Variant related genes	Relation type
ENSG00000104490	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10105250	0.89[ASN][1000 genomes]
rs10505016	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1269713	0.88[ASN][1000 genomes]
rs1269714	0.88[ASN][1000 genomes]
rs1269715	0.88[ASN][1000 genomes]
rs1269716	0.88[ASN][1000 genomes]
rs1351063	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2187193	0.88[ASN][1000 genomes]
rs2226768	0.88[ASN][1000 genomes]
rs2387330	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2860153	0.84[ASN][1000 genomes]
rs4734051	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4734610	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4734611	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4734613	0.87[ASN][1000 genomes]
rs6990972	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7006931	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7357558	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7829974	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7833943	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv891231	chr8:103001914-103076379	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv891232	chr8:103001914-103138045	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv891233	chr8:103001914-103162638	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102990400-103008000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:102992600-103005600	Weak transcription	Left Ventricle	heart
3	chr8:102992600-103007600	Weak transcription	Lung	lung
4	chr8:102993200-103008400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:102994200-103007800	Weak transcription	Right Ventricle	heart
6	chr8:103000000-103007800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:103000800-103010000	Weak transcription	Fetal Brain Male	brain
8	chr8:103002200-103009800	Weak transcription	K562	blood
9	chr8:103003800-103007000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr8:103004000-103006000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr8:103004000-103008000	Weak transcription	Fetal Heart	heart
12	chr8:103005000-103007800	Weak transcription	Ovary	ovary
13	chr8:103005000-103009800	Weak transcription	Brain Germinal Matrix	brain
14	chr8:103005200-103009000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:103005400-103006000	Enhancers	Psoas Muscle	Psoas
16	chr8:103005400-103007200	Enhancers	Aorta	Aorta
17	chr8:103005400-103007800	Weak transcription	Fetal Muscle Leg	muscle

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