Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:55164082..55167109-chr2:55181433..55184478,3	K562	blood:
2	chr2:55164941..55167851-chr2:55169428..55172697,4	K562	blood:
3	chr2:55164082..55168413-chr2:55180367..55184478,5	K562	blood:

Variant related genes	Relation type
ENSG00000214595	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10196667	0.97[ASN][1000 genomes]
rs10746530	0.97[ASN][1000 genomes]
rs11125551	0.90[ASN][1000 genomes]
rs11904457	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12475185	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13002841	1.00[AFR][1000 genomes]
rs13008105	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13020490	0.97[ASN][1000 genomes]
rs13023202	1.00[AFR][1000 genomes]
rs13026576	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13028800	0.93[ASN][1000 genomes]
rs17418111	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2580766	1.00[AFR][1000 genomes]
rs2588520	1.00[AFR][1000 genomes]
rs2919125	1.00[AFR][1000 genomes]
rs34227740	1.00[AFR][1000 genomes]
rs34564860	1.00[AFR][1000 genomes]
rs36063689	0.88[ASN][1000 genomes]
rs4233956	0.97[ASN][1000 genomes]
rs4504034	0.97[ASN][1000 genomes]
rs4525735	0.97[ASN][1000 genomes]
rs4671233	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4671998	0.97[ASN][1000 genomes]
rs55777421	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6545462	0.93[ASN][1000 genomes]
rs67721747	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7559248	1.00[AFR][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	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv582029	chr2:55159043-55204498	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs36024305	RTN4	cis	Thyroid	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55150000-55168400	Weak transcription	Pancreas	Pancrea
2	chr2:55154400-55168000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:55154800-55167800	Weak transcription	Brain Angular Gyrus	brain
4	chr2:55165800-55169200	Enhancers	Fetal Muscle Leg	muscle
5	chr2:55166200-55167000	Enhancers	Fetal Muscle Trunk	muscle
6	chr2:55166200-55169000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:55166200-55172800	Weak transcription	Gastric	stomach
8	chr2:55166600-55166800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:55166600-55167200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:55166600-55167600	Weak transcription	Brain Anterior Caudate	brain

Quick Search: