Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223523045..223525039-chr1:223526417..223529119,2	K562	blood:

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10495206	0.85[EUR][1000 genomes]
rs10495207	0.91[EUR][1000 genomes]
rs10907376	0.83[EUR][1000 genomes]
rs1115114	0.83[AFR][1000 genomes]
rs11261264	0.87[EUR][1000 genomes]
rs11261270	0.83[AFR][1000 genomes]
rs12123148	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12140453	0.86[EUR][1000 genomes]
rs12564615	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1547788	0.82[EUR][1000 genomes]
rs17162008	0.91[EUR][1000 genomes]
rs17163825	0.82[EUR][1000 genomes]
rs17163828	0.85[EUR][1000 genomes]
rs17163831	0.83[EUR][1000 genomes]
rs17480087	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17480344	0.85[EUR][1000 genomes]
rs17539269	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17539583	0.91[EUR][1000 genomes]
rs17578168	0.91[EUR][1000 genomes]
rs17578203	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1772280	0.83[EUR][1000 genomes]
rs34150324	0.86[EUR][1000 genomes]
rs61838210	0.85[EUR][1000 genomes]
rs61838229	0.85[EUR][1000 genomes]
rs61838230	0.85[EUR][1000 genomes]
rs61838231	0.85[EUR][1000 genomes]
rs61838238	0.91[EUR][1000 genomes]
rs61838239	0.91[EUR][1000 genomes]
rs61838240	0.91[EUR][1000 genomes]
rs61838243	0.91[EUR][1000 genomes]
rs61838250	0.93[EUR][1000 genomes]
rs61838252	0.83[EUR][1000 genomes]
rs61839867	0.85[EUR][1000 genomes]
rs870486	0.84[EUR][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	nsv1000039	chr1:223429733-223527845	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1010798	chr1:223498145-223538989	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17163827	SUSD4	cis	Heart Left Ventricle	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223506600-223526000	Weak transcription	Esophagus	oesophagus
2	chr1:223511800-223527000	Enhancers	Fetal Heart	heart
3	chr1:223514000-223526200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:223514400-223535800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:223517600-223527400	Enhancers	Ovary	ovary
6	chr1:223522200-223525200	Weak transcription	Primary T cells from cord blood	blood
7	chr1:223523200-223524600	Enhancers	Fetal Muscle Leg	muscle
8	chr1:223523400-223524800	Enhancers	Gastric	stomach
9	chr1:223523400-223525400	Weak transcription	Brain Anterior Caudate	brain

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