Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209458110..209461415-chr1:209461742..209463883,3	K562	blood:

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

rs_ID	r²[population]
rs1006316	0.92[CHB][hapmap]
rs1006317	0.92[CHB][hapmap]
rs10494921	0.84[AMR][1000 genomes]
rs11811038	0.81[MEX][hapmap]
rs12096864	1.00[CEU][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12135550	0.84[CHB][hapmap]
rs1354853	0.92[CHB][hapmap]
rs1395753	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1507331	0.82[AMR][1000 genomes]
rs1507336	0.92[CHB][hapmap]
rs17014203	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17014320	0.90[AMR][1000 genomes]
rs17014323	0.85[AMR][1000 genomes]
rs17014337	0.91[CHB][hapmap];0.81[AMR][1000 genomes]
rs17014370	0.92[CHB][hapmap];0.81[GIH][hapmap]
rs17014375	0.92[CHB][hapmap]
rs17014395	0.92[CHB][hapmap]
rs17014396	0.92[CHB][hapmap];0.81[MEX][hapmap]
rs1857967	0.84[CHB][hapmap]
rs2292210	0.88[ASN][1000 genomes]
rs4844797	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4844798	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4844807	0.83[AMR][1000 genomes]
rs4844809	0.87[AMR][1000 genomes]
rs4844815	0.84[CHB][hapmap];0.93[GIH][hapmap]
rs6680924	0.89[CEU][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7516864	1.00[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs7548184	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10494920	RBBP5	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209460800-209466000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

Quick Search: