Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:205425587..205428790-chr2:205435379..205438697,3	K562	blood:

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10203725	0.94[ASN][1000 genomes]
rs10932076	0.80[ASN][1000 genomes]
rs11883548	0.83[ASN][1000 genomes]
rs11890980	0.89[ASN][1000 genomes]
rs11892599	0.94[ASN][1000 genomes]
rs11901243	0.81[ASN][1000 genomes]
rs11902442	0.97[AFR][1000 genomes]
rs11903539	0.80[ASN][1000 genomes]
rs11904034	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11904833	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12052242	0.80[ASN][1000 genomes]
rs13412566	0.94[ASN][1000 genomes]
rs13414039	0.94[ASN][1000 genomes]
rs16836425	0.85[ASN][1000 genomes]
rs57533510	0.83[ASN][1000 genomes]
rs57675666	0.83[ASN][1000 genomes]
rs58974771	0.89[AFR][1000 genomes]
rs60179096	0.83[ASN][1000 genomes]
rs60317037	0.85[ASN][1000 genomes]
rs6743282	0.91[ASN][1000 genomes]
rs73057275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73057279	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73057281	0.95[AFR][1000 genomes]
rs73057289	0.93[ASN][1000 genomes]
rs73059006	0.83[ASN][1000 genomes]
rs73059007	0.83[ASN][1000 genomes]
rs73059010	0.83[ASN][1000 genomes]
rs73059031	0.81[ASN][1000 genomes]
rs73984241	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73984246	0.83[ASN][1000 genomes]
rs73984251	0.81[ASN][1000 genomes]
rs73984252	0.80[ASN][1000 genomes]
rs73984257	0.83[ASN][1000 genomes]
rs73984258	0.83[ASN][1000 genomes]
rs7557006	0.83[ASN][1000 genomes]
rs7570984	1.00[AMR][1000 genomes]
rs7575842	0.82[ASN][1000 genomes]
rs7577949	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205411600-205438000	Weak transcription	Left Ventricle	heart
2	chr2:205425800-205454400	Weak transcription	HSMM	muscle
3	chr2:205429200-205437800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:205430000-205438400	Weak transcription	Aorta	Aorta
5	chr2:205431200-205438400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:205431600-205440600	Weak transcription	Adipose Nuclei	Adipose
7	chr2:205434800-205437200	Enhancers	Fetal Intestine Small	intestine
8	chr2:205435000-205441000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:205435200-205438400	Weak transcription	Gastric	stomach
10	chr2:205435200-205438400	Weak transcription	Lung	lung
11	chr2:205435200-205438600	Enhancers	Liver	Liver
12	chr2:205435400-205438200	Weak transcription	Pancreas	Pancrea
13	chr2:205435400-205440200	Weak transcription	Psoas Muscle	Psoas
14	chr2:205436200-205437800	Weak transcription	Brain Anterior Caudate	brain
15	chr2:205436200-205438200	Weak transcription	Ovary	ovary
16	chr2:205436200-205438800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:205436400-205436800	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:205436400-205436800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:205436400-205438000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:205436600-205436800	Enhancers	Brain Hippocampus Middle	brain
21	chr2:205436600-205437200	Enhancers	Fetal Intestine Large	intestine

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