Variant report

Variant	rs9918807
Chromosome Location	chr8:130676639-130676640
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	chr8:130675152..130676691-chr8:130678992..130680663,2	K562	blood:
2	chr8:130674254..130677213-chr8:130689941..130692563,2	K562	blood:

Variant related genes	Relation type
ENSG00000229140	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10099422	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12707937	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13250001	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13250057	1.00[AFR][1000 genomes]
rs13256760	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13263733	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13264700	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13265576	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13267039	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13267746	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13280368	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34092021	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34319381	0.92[ASN][1000 genomes]
rs34390591	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34716000	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34728826	1.00[AFR][1000 genomes]
rs34865413	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35125576	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35509786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35577995	0.92[ASN][1000 genomes]
rs35778967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4382437	0.92[ASN][1000 genomes]
rs56049814	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59225459	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59672682	0.91[ASN][1000 genomes]
rs60812642	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62523768	0.91[ASN][1000 genomes]
rs66910128	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67986379	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68077667	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6998742	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7004790	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72716385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72716391	0.89[EUR][1000 genomes]
rs7841674	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9297796	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891446	chr8:130656205-130710638	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Retinopathy in non-diabetics	23393555	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130674000-130677800	Weak transcription	K562	blood
2	chr8:130675600-130678000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:130675800-130677600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:130675800-130680400	Enhancers	Primary hematopoietic stem cells	blood
5	chr8:130676400-130677200	Enhancers	Primary T cells from cord blood	blood
6	chr8:130676400-130680000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr8:130676600-130676800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr8:130676600-130677000	Enhancers	Thymus	Thymus
9	chr8:130676600-130678000	Enhancers	Monocytes-CD14+_RO01746	blood

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