Variant report

Variant	rs12545821
Chromosome Location	chr8:130676833-130676834
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	chr8:130674254..130677213-chr8:130689941..130692563,2	K562	blood:

Variant related genes	Relation type
ENSG00000229140	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10097823	0.80[ASN][1000 genomes]
rs10098045	0.80[ASN][1000 genomes]
rs12155665	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12544799	0.92[ASN][1000 genomes]
rs13249422	0.93[ASN][1000 genomes]
rs13249717	0.91[ASN][1000 genomes]
rs13250002	0.91[ASN][1000 genomes]
rs13250085	0.80[ASN][1000 genomes]
rs13252239	0.90[ASN][1000 genomes]
rs13256078	0.81[ASN][1000 genomes]
rs13258791	0.91[ASN][1000 genomes]
rs16904136	0.92[ASN][1000 genomes]
rs16904138	0.92[ASN][1000 genomes]
rs16904139	0.92[ASN][1000 genomes]
rs28408379	0.80[ASN][1000 genomes]
rs28491539	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34064664	0.81[ASN][1000 genomes]
rs34135752	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34271371	0.94[ASN][1000 genomes]
rs34325696	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34389024	0.88[ASN][1000 genomes]
rs35057631	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs35319444	0.80[ASN][1000 genomes]
rs35406957	0.80[ASN][1000 genomes]
rs35484532	0.81[ASN][1000 genomes]
rs35823317	0.81[ASN][1000 genomes]
rs35928814	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36121385	0.80[ASN][1000 genomes]
rs4327829	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4397369	0.80[ASN][1000 genomes]
rs4397370	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4448234	0.92[ASN][1000 genomes]
rs4518628	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4562281	0.88[ASN][1000 genomes]
rs4565426	0.81[ASN][1000 genomes]
rs4566996	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4609165	0.88[ASN][1000 genomes]
rs4626563	0.92[ASN][1000 genomes]
rs4733553	0.89[ASN][1000 genomes]
rs4733556	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4733720	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58311093	0.92[ASN][1000 genomes]
rs6470753	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6985166	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6991709	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6991966	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6997969	0.92[ASN][1000 genomes]
rs6998156	0.92[ASN][1000 genomes]
rs6998279	0.92[ASN][1000 genomes]
rs6998547	0.92[ASN][1000 genomes]
rs6998877	0.91[ASN][1000 genomes]
rs7006026	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7006796	0.94[ASN][1000 genomes]
rs71522551	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7812657	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7841900	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7841975	0.89[ASN][1000 genomes]
rs9792140	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9792265	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[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

No data

Chromatin state (count:10 , 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	chr8:130676600-130677000	Enhancers	Thymus	Thymus
8	chr8:130676600-130678000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr8:130676800-130678200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr8:130676800-130680200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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