Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:205425587..205428790-chr2:205435379..205438697,3	K562	blood:
2	chr2:205425587..205427655-chr2:205437197..205439824,2	K562	blood:
3	chr2:205409483..205411822-chr2:205424670..205427425,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116117	Chromatin interaction

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10166278	1.00[EUR][1000 genomes]
rs10175056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10184804	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10184836	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10190012	1.00[EUR][1000 genomes]
rs10190374	1.00[EUR][1000 genomes]
rs10194617	1.00[EUR][1000 genomes]
rs10199785	1.00[EUR][1000 genomes]
rs10199977	1.00[EUR][1000 genomes]
rs10205679	1.00[EUR][1000 genomes]
rs11899900	1.00[EUR][1000 genomes]
rs11904034	1.00[EUR][1000 genomes]
rs11904064	1.00[EUR][1000 genomes]
rs12328697	1.00[EUR][1000 genomes]
rs13397135	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13397282	1.00[EUR][1000 genomes]
rs13399833	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13399965	1.00[EUR][1000 genomes]
rs13400246	1.00[EUR][1000 genomes]
rs13407064	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13410864	1.00[EUR][1000 genomes]
rs13412566	1.00[EUR][1000 genomes]
rs13427607	1.00[EUR][1000 genomes]
rs13428250	1.00[EUR][1000 genomes]
rs2197690	1.00[EUR][1000 genomes]
rs28822675	1.00[AMR][1000 genomes]
rs28839574	1.00[AMR][1000 genomes]
rs4645000	1.00[EUR][1000 genomes]
rs6741392	1.00[EUR][1000 genomes]
rs6742324	1.00[AMR][1000 genomes]
rs6742942	1.00[EUR][1000 genomes]
rs73057258	1.00[EUR][1000 genomes]
rs73057269	1.00[EUR][1000 genomes]
rs73057270	1.00[EUR][1000 genomes]
rs73984226	1.00[EUR][1000 genomes]
rs9288355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9973966	1.00[EUR][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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205411600-205426600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:205411600-205438000	Weak transcription	Left Ventricle	heart
3	chr2:205412000-205427600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:205412000-205429800	Weak transcription	Aorta	Aorta
5	chr2:205416400-205428000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:205416600-205427000	Weak transcription	Fetal Lung	lung
7	chr2:205417600-205434600	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:205420000-205426400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:205425800-205427200	Enhancers	Stomach Mucosa	stomach
10	chr2:205425800-205454400	Weak transcription	HSMM	muscle
11	chr2:205426000-205426800	Enhancers	Ovary	ovary
12	chr2:205426000-205427600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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