Variant report

Variant	rs12707937
Chromosome Location	chr8:130655278-130655279
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	chr8:130646298..130649047-chr8:130652440..130655426,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10099422	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13250001	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs13250057	1.00[AFR][1000 genomes]
rs13256760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13263733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13264700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13265576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13267039	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13267746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13280368	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34092021	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34319381	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34390591	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34716000	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34728826	1.00[AFR][1000 genomes]
rs34865413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35125576	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35226520	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35509786	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35577995	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35778967	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4382437	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs56049814	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59225459	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs59672682	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs60812642	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62523768	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs66910128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67986379	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68077667	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6998742	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7004790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72716385	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72716391	0.84[EUR][1000 genomes]
rs7841674	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9297796	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9918807	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[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	nsv612230	chr8:130624121-130661901	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130651000-130655400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:130652600-130656000	Weak transcription	Fetal Lung	lung
3	chr8:130654400-130656400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:130654600-130655800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:130654800-130656400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:130655000-130655800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr8:130655200-130656800	Enhancers	Fetal Muscle Leg	muscle

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