Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130646298..130649047-chr8:130652440..130655426,2	K562	blood:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10097823	0.80[EUR][1000 genomes]
rs10098045	0.81[EUR][1000 genomes]
rs13249717	0.94[EUR][1000 genomes]
rs13250085	0.81[EUR][1000 genomes]
rs13256078	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13263823	0.80[EUR][1000 genomes]
rs13267723	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs16904128	0.81[EUR][1000 genomes]
rs16904136	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16904138	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28408379	0.81[EUR][1000 genomes]
rs28464338	0.81[EUR][1000 genomes]
rs34064664	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35319444	0.81[EUR][1000 genomes]
rs35406957	0.81[EUR][1000 genomes]
rs35484532	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35823317	0.80[AMR][1000 genomes]
rs36121385	0.81[EUR][1000 genomes]
rs4397369	0.81[EUR][1000 genomes]
rs4562281	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4565426	0.81[EUR][1000 genomes]
rs4609165	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4626563	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4733553	0.94[EUR][1000 genomes]
rs55719299	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998547	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7828331	0.81[EUR][1000 genomes]
rs7841975	0.93[EUR][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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130636800-130651600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:130640200-130651600	Weak transcription	Fetal Muscle Leg	muscle
3	chr8:130647200-130649200	Enhancers	HUVEC	blood vessel
4	chr8:130647400-130648600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:130647400-130648800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:130647400-130649000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr8:130647600-130648000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:130647600-130648600	Enhancers	Osteobl	bone
9	chr8:130647800-130648800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:130647800-130649000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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