Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48617829..48620871-chr2:48622412..48626412,3	K562	blood:
2	chr2:48338352..48340381-chr2:48619344..48622319,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10182093	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10191938	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10195717	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10197359	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11674217	0.93[EUR][1000 genomes]
rs11676078	0.93[EUR][1000 genomes]
rs11678934	0.83[EUR][1000 genomes]
rs11679685	0.84[EUR][1000 genomes]
rs11682838	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11683202	0.93[EUR][1000 genomes]
rs11691302	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11691407	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11692537	0.93[EUR][1000 genomes]
rs11694094	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11694955	0.83[EUR][1000 genomes]
rs13398456	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17397449	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28505584	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28581888	0.84[AFR][1000 genomes]
rs4364065	0.84[EUR][1000 genomes]
rs59217824	0.85[AFR][1000 genomes]
rs61592994	0.84[AFR][1000 genomes]
rs72889649	0.86[AFR][1000 genomes]
rs72889654	0.84[AFR][1000 genomes]
rs7573281	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7584796	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv874001	chr2:48534363-48624007	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv874003	chr2:48570509-48619869	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48619200-48622800	Weak transcription	HepG2	liver
2	chr2:48619200-48624600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:48619400-48622400	Weak transcription	Fetal Intestine Small	intestine
4	chr2:48619400-48622800	Weak transcription	Adipose Nuclei	Adipose
5	chr2:48619400-48623000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:48619400-48623000	Weak transcription	Fetal Intestine Large	intestine
7	chr2:48619400-48624000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:48619400-48624600	Weak transcription	Brain Angular Gyrus	brain
9	chr2:48619400-48624600	Weak transcription	Brain Anterior Caudate	brain
10	chr2:48619400-48624600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:48619400-48625400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:48619600-48624400	Weak transcription	Brain Hippocampus Middle	brain

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