Variant report

Variant	rs6470753
Chromosome Location	chr8:130675840-130675841
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: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10097823	0.92[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs10098045	0.93[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs12155665	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12544799	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs12545821	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13249422	0.95[ASN][1000 genomes]
rs13249717	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs13250002	0.93[ASN][1000 genomes]
rs13250085	0.92[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs13252239	0.93[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs13256078	0.93[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs13258791	0.93[ASN][1000 genomes]
rs16904128	0.92[CHB][hapmap];0.81[ASN][1000 genomes]
rs16904136	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs16904138	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs16904139	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs28408379	0.82[ASN][1000 genomes]
rs28491539	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34064664	0.83[ASN][1000 genomes]
rs34135752	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34271371	0.96[ASN][1000 genomes]
rs34325696	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34389024	0.90[ASN][1000 genomes]
rs35057631	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs35319444	0.82[ASN][1000 genomes]
rs35406957	0.82[ASN][1000 genomes]
rs35484532	0.83[ASN][1000 genomes]
rs35823317	0.83[ASN][1000 genomes]
rs35928814	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36121385	0.82[ASN][1000 genomes]
rs4327829	0.92[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4397369	0.82[ASN][1000 genomes]
rs4397370	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4448234	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4518628	0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4562281	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs4565426	0.93[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs4566996	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4609165	0.91[ASN][1000 genomes]
rs4626563	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs4634602	0.80[ASN][1000 genomes]
rs4733553	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs4733556	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733720	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58311093	0.94[ASN][1000 genomes]
rs6985166	0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6987436	0.95[JPT][hapmap]
rs6991709	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6991966	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6997969	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs6998156	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs6998279	0.94[ASN][1000 genomes]
rs6998547	0.94[ASN][1000 genomes]
rs6998877	0.93[ASN][1000 genomes]
rs7006026	0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7006796	0.92[ASN][1000 genomes]
rs71522551	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7812657	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7828331	0.92[CHB][hapmap];0.81[ASN][1000 genomes]
rs7841900	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7841975	0.92[ASN][1000 genomes]
rs9792140	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9792265	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130674000-130677800	Weak transcription	K562	blood
2	chr8:130675000-130676400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr8:130675600-130678000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:130675800-130677600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:130675800-130680400	Enhancers	Primary hematopoietic stem cells	blood

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